ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Chromosome Search Result

Search by: Chr = chr20

SNP: 333
CNV: 6
Gene: 62
Region: 1

SNP (count: 333)

Literature-origin SNPs (count: 83)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs3746544	Chr20:10287084(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	13(5/8/0)
rs1051312	Chr20:10287088(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	10(1/9/0)
rs363006	Chr20:10280083(Fwd)	intron_variant; nc_transcript_variant	6(0/6/0)
rs362987	Chr20:10277452(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	5(1/4/0)
rs8636	Chr20:10287742(Fwd)	3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	4(2/2/0)
rs6090384	Chr20:61990874(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	4(0/4/0)
rs6039806	Chr20:10258654(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant	3(1/2/0)
rs362549	Chr20:10269890(Fwd)	intron_variant; nc_transcript_variant	3(2/1/0)
rs362569	Chr20:10246733(Fwd)	intron_variant; nc_transcript_variant	3(0/3/0)
rs362988	Chr20:10281370(Fwd)	intron_variant; nc_transcript_variant	3(1/2/0)
rs1889189	Chr20:10197086(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	3(0/3/0)
rs2273506	Chr20:61990939(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant	3(0/3/0)
rs2423486	Chr20:10212212(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant	2(0/2/0)
rs6077690	Chr20:10197461(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs6108464	Chr20:10283950(Fwd)	intron_variant; nc_transcript_variant	2(1/1/0)
rs17729098	Chr20:59077648(Fwd)	intron_variant; nc_transcript_variant	2(0/0/2)
rs362599	Chr20:10291812(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	2(0/2/0)
rs362998	Chr20:10277621(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	2(1/1/0)
rs3787283	Chr20:10284418(Fwd)	intron_variant; nc_transcript_variant	2(1/1/0)
rs755203	Chr20:61994264(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs2273505	Chr20:61990878(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	2(1/1/0)
rs4642009	Chr20:10267726(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs2327264	Chr20:10206254(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs2327265	Chr20:10218274(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs2327269	Chr20:10303128(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs4813023	Chr20:10194246(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs4813925	Chr20:10286313(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs4815670	Chr20:4216864(Fwd)	intron_variant	1(0/1/0)
rs10485813	Chr20:51583983(Fwd)	upstream_gene_variant	1(0/0/1)
rs2423487	Chr20:10213095(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs1535028	Chr20:58814428(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)
rs8118409	Chr20:4216663(Fwd)	intron_variant	1(0/1/0)
rs8183794	Chr20:4210448(Fwd)	intron_variant	1(0/1/0)
rs1555322	Chr20:33849179(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)
rs1556832	Chr20:4215557(Fwd)	intron_variant	1(0/1/0)
rs913000	Chr20:54836354(Fwd)		1(0/1/0)
rs932792	Chr20:54851746(Fwd)		1(0/1/0)
rs6014657	Chr20:54833431(Fwd)		1(0/0/1)
rs6014664	Chr20:54848977(Fwd)	downstream_gene_variant	1(0/0/1)
rs16997358	Chr20:51582072(Fwd)		1(0/0/1)
rs6039769	Chr20:10198954(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2865793	Chr20:58799401(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)
rs6052456	Chr20:4225573(Fwd)	intron_variant	1(0/1/0)
rs6064361	Chr20:54841008(Fwd)	upstream_gene_variant	1(0/1/0)
rs6064362	Chr20:54845796(Fwd)	downstream_gene_variant	1(0/1/0)
rs6074109	Chr20:10193294(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs6074121	Chr20:10290703(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/1/0)
rs6077699	Chr20:10224306(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs6084670	Chr20:4222509(Fwd)	intron_variant	1(0/1/0)
rs6100796	Chr20:58800873(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)
rs6104571	Chr20:10224750(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs3025873	Chr20:10269040(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs6116268	Chr20:4211440(Fwd)	intron_variant	1(0/1/0)
rs6133098	Chr20:4217249(Fwd)	intron_variant	1(0/1/0)
rs6134520	Chr20:1288223(Fwd)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs362553	Chr20:10299223(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs362555	Chr20:10309836(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs362562	Chr20:10243186(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs362567	Chr20:10246091(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs362584	Chr20:10254475(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs362585	Chr20:10256252(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs362986	Chr20:10277034(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)
rs362993	Chr20:10276716(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs363012	Chr20:10219799(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs363014	Chr20:10228694(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs363020	Chr20:10237223(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs363021	Chr20:10241811(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs363035	Chr20:10218958(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs363040	Chr20:10221467(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs363050	Chr20:10234257(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs1980818	Chr20:54840706(Fwd)	upstream_gene_variant	1(0/1/0)
rs3764715	Chr20:1287051(Fwd)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs3787141	Chr20:61989394(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs3787441	Chr20:4205060(Fwd)	intron_variant	1(0/1/0)
rs3787442	Chr20:4225394(Fwd)	intron_variant	1(0/1/0)
rs709024	Chr20:4201984(Fwd)	3_prime_UTR_variant	1(0/1/0)
rs2076240	Chr20:10264922(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs3818204	Chr20:61991141(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs7267923	Chr20:61996901(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs7271202	Chr20:58801643(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)
rs2206161	Chr20:10334969(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1326021	Chr20:54844146(Fwd)	nc_transcript_variant; non_coding_exon_variant	1(0/1/0)
rs1326022	Chr20:54844025(Fwd)	nc_transcript_variant; non_coding_exon_variant	1(0/1/0)

LD-proxies (count: 250)

rs_ID	Location	Functional Annotation
rs2007072	Chr20:54871895(Fwd)	intron_variant; nc_transcript_variant
rs2426606	Chr20:54872859(Fwd)	intron_variant; nc_transcript_variant
rs2426607	Chr20:54872931(Fwd)	intron_variant; nc_transcript_variant
rs2426608	Chr20:54873468(Fwd)	intron_variant; nc_transcript_variant
rs6024739	Chr20:54839615(Fwd)	upstream_gene_variant
rs1409225	Chr20:54841663(Fwd)	upstream_gene_variant
rs1326019	Chr20:54844642(Fwd)	downstream_gene_variant
rs6024743	Chr20:54846714(Fwd)	downstream_gene_variant
rs6099064	Chr20:54846771(Fwd)	downstream_gene_variant
rs4811686	Chr20:54847712(Fwd)	downstream_gene_variant
rs2182355	Chr20:54853402(Fwd)
rs6127718	Chr20:54854771(Fwd)
rs6024763	Chr20:54858742(Fwd)
rs6123575	Chr20:54861411(Fwd)
rs927809	Chr20:54862685(Fwd)
rs6127723	Chr20:54873707(Fwd)	intron_variant; nc_transcript_variant
rs6123578	Chr20:54877474(Fwd)	upstream_gene_variant
rs6127725	Chr20:54883588(Fwd)
rs6024783	Chr20:54884338(Fwd)
rs2426614	Chr20:54932426(Fwd)	upstream_gene_variant
rs2870731	Chr20:54848227(Fwd)	downstream_gene_variant
rs6024751	Chr20:54851709(Fwd)
rs946190	Chr20:4236944(Fwd)
rs6107439	Chr20:4258586(Fwd)
rs13044877	Chr20:4258905(Fwd)
rs1556825	Chr20:4259357(Fwd)
rs4815683	Chr20:4260649(Fwd)
rs8114863	Chr20:4262648(Fwd)
rs6133845	Chr20:10263915(Fwd)	intron_variant; nc_transcript_variant
rs6076651	Chr20:4264100(Fwd)
rs2076239	Chr20:10265180(Fwd)	intron_variant; nc_transcript_variant
rs3848812	Chr20:4281673(Fwd)
rs2284297	Chr20:10265897(Fwd)	intron_variant; nc_transcript_variant
rs6084692	Chr20:4282075(Fwd)
rs2284299	Chr20:10266247(Fwd)	intron_variant; nc_transcript_variant
rs6069681	Chr20:54845719(Fwd)	downstream_gene_variant
rs2284300	Chr20:10266824(Fwd)	intron_variant; nc_transcript_variant
rs1041153	Chr20:54876878(Fwd)	upstream_gene_variant
rs362590	Chr20:10271117(Fwd)	intron_variant; nc_transcript_variant
rs6064375	Chr20:54883357(Fwd)
rs362592	Chr20:10272492(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6092286	Chr20:54862583(Fwd)
rs362991	Chr20:10276281(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs362995	Chr20:10277039(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs362999	Chr20:10278960(Fwd)	intron_variant; nc_transcript_variant
rs363004	Chr20:10279797(Fwd)	intron_variant; nc_transcript_variant
rs362582	Chr20:10254287(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs8116632	Chr20:10247685(Fwd)	intron_variant; nc_transcript_variant
rs2225631	Chr20:10170614(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4813919	Chr20:10171007(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2210581	Chr20:10171737(Fwd)	intron_variant; nc_transcript_variant
rs11087007	Chr20:10172676(Fwd)	intron_variant; nc_transcript_variant
rs6108441	Chr20:10174920(Fwd)	intron_variant; nc_transcript_variant
rs6133831	Chr20:10175125(Fwd)	intron_variant; nc_transcript_variant
rs6133832	Chr20:10177651(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1889188	Chr20:10179531(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6039760	Chr20:10181582(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6104566	Chr20:10185892(Fwd)	intron_variant; nc_transcript_variant
rs2210586	Chr20:10187868(Fwd)	intron_variant; nc_transcript_variant
rs2095226	Chr20:10188245(Fwd)	intron_variant; nc_transcript_variant
rs6074108	Chr20:10188440(Fwd)	intron_variant; nc_transcript_variant
rs6108445	Chr20:10188612(Fwd)	intron_variant; nc_transcript_variant
rs6133822	Chr20:10159081(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6133823	Chr20:10159214(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs10485739	Chr20:10160092(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs1999552	Chr20:10161225(Fwd)	intron_variant; nc_transcript_variant
rs944873	Chr20:10166398(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs2210582	Chr20:10175495(Fwd)	intron_variant; nc_transcript_variant
rs2225634	Chr20:10178022(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6032822	Chr20:10178187(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6108443	Chr20:10181438(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2326478	Chr20:4208247(Fwd)	intron_variant
rs6039765	Chr20:10186146(Fwd)	intron_variant; nc_transcript_variant
rs835880	Chr20:4208895(Fwd)	intron_variant
rs362552	Chr20:10296217(Fwd)	intron_variant; nc_transcript_variant
rs41436649	Chr20:4089253(Fwd)
rs362604	Chr20:10295209(Fwd)	intron_variant; nc_transcript_variant
rs7268664	Chr20:10295257(Fwd)	intron_variant; nc_transcript_variant
rs6032845	Chr20:10291007(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4813927	Chr20:10291487(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6077729	Chr20:10295568(Fwd)	intron_variant; nc_transcript_variant
rs363043	Chr20:10226146(Fwd)	intron_variant; nc_transcript_variant
rs6514092	Chr20:10232312(Fwd)	intron_variant; nc_transcript_variant
rs6039791	Chr20:10233264(Fwd)	intron_variant; nc_transcript_variant
rs11696896	Chr20:58797926(Fwd)	intron_variant; nc_transcript_variant
rs6027427	Chr20:58802496(Fwd)	intron_variant; nc_transcript_variant
rs17791789	Chr20:58821344(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6027423	Chr20:58801281(Fwd)	intron_variant; nc_transcript_variant
rs1381098	Chr20:58812308(Fwd)	intron_variant; nc_transcript_variant
rs6027426	Chr20:58802338(Fwd)	intron_variant; nc_transcript_variant
rs6015696	Chr20:58804705(Fwd)	intron_variant; nc_transcript_variant
rs6100819	Chr20:58821038(Fwd)	intron_variant; nc_transcript_variant
rs6100820	Chr20:58821053(Fwd)	intron_variant; nc_transcript_variant
rs11697799	Chr20:58811309(Fwd)	intron_variant; nc_transcript_variant
rs2225635	Chr20:10206117(Fwd)	intron_variant; nc_transcript_variant
rs1158827	Chr20:10213542(Fwd)	intron_variant; nc_transcript_variant
rs6077697	Chr20:10216048(Fwd)	intron_variant; nc_transcript_variant
rs363011	Chr20:10217336(Fwd)	intron_variant; nc_transcript_variant
rs1158497	Chr20:10217900(Fwd)	intron_variant; nc_transcript_variant
rs363031	Chr20:10218155(Fwd)	intron_variant; nc_transcript_variant
rs1013044	Chr20:10221044(Fwd)	intron_variant; nc_transcript_variant
rs6032826	Chr20:10203817(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs41378446	Chr20:10280439(Fwd)	intron_variant; nc_transcript_variant
rs3787303	Chr20:10208748(Fwd)	intron_variant; nc_transcript_variant
rs16991263	Chr20:10215449(Fwd)	intron_variant; nc_transcript_variant
rs363026	Chr20:10216902(Fwd)	intron_variant; nc_transcript_variant
rs363029	Chr20:10217497(Fwd)	intron_variant; nc_transcript_variant
rs6039783	Chr20:10218034(Fwd)	intron_variant; nc_transcript_variant
rs2327266	Chr20:10218321(Fwd)	intron_variant; nc_transcript_variant
rs2327267	Chr20:10218376(Fwd)	intron_variant; nc_transcript_variant
rs363032	Chr20:10218644(Fwd)	intron_variant; nc_transcript_variant
rs3787300	Chr20:10218793(Fwd)	intron_variant; nc_transcript_variant
rs363036	Chr20:10219212(Fwd)	intron_variant; nc_transcript_variant
rs363037	Chr20:10219925(Fwd)	intron_variant; nc_transcript_variant
rs363038	Chr20:10219937(Fwd)	intron_variant; nc_transcript_variant
rs6104567	Chr20:10195433(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2327263	Chr20:10183018(Fwd)	intron_variant; nc_transcript_variant
rs6039764	Chr20:10183783(Fwd)	intron_variant; nc_transcript_variant
rs4813921	Chr20:10190093(Fwd)	intron_variant; nc_transcript_variant
rs6032824	Chr20:10193271(Fwd)	intron_variant; nc_transcript_variant
rs6027429	Chr20:58803597(Fwd)	intron_variant; nc_transcript_variant
rs6039758	Chr20:10171309(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs1551763	Chr20:58809172(Fwd)	intron_variant; nc_transcript_variant
rs2026537	Chr20:10172605(Fwd)	intron_variant; nc_transcript_variant
rs6027433	Chr20:58814760(Fwd)	intron_variant; nc_transcript_variant
rs2026538	Chr20:10172796(Fwd)	intron_variant; nc_transcript_variant
rs6027434	Chr20:58815513(Fwd)	intron_variant; nc_transcript_variant
rs6032821	Chr20:10173177(Fwd)	intron_variant; nc_transcript_variant
rs966846	Chr20:1266403(Fwd)	intron_variant
rs7262838	Chr20:58818570(Fwd)	intron_variant; nc_transcript_variant
rs6039759	Chr20:10180270(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs912108	Chr20:1272405(Fwd)	intron_variant
rs6092909	Chr20:58825112(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6039762	Chr20:10182254(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs3795139	Chr20:1285933(Fwd)	downstream_gene_variant; synonymous_variant
rs6100836	Chr20:58827268(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6039763	Chr20:10183517(Fwd)	intron_variant; nc_transcript_variant
rs11449	Chr20:1291018(Fwd)	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant
rs6027432	Chr20:58814310(Fwd)	intron_variant; nc_transcript_variant
rs2327262	Chr20:10169643(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2273957	Chr20:1291778(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs8120039	Chr20:58815968(Fwd)	intron_variant; nc_transcript_variant
rs6109320	Chr20:1277157(Fwd)	downstream_gene_variant; intron_variant
rs6027436	Chr20:58816047(Fwd)	intron_variant; nc_transcript_variant
rs2317645	Chr20:1279336(Fwd)	downstream_gene_variant; intron_variant
rs11696475	Chr20:58816236(Fwd)	intron_variant; nc_transcript_variant
rs3795142	Chr20:1280995(Fwd)	downstream_gene_variant; intron_variant
rs6027437	Chr20:58816388(Fwd)	intron_variant; nc_transcript_variant
rs3795141	Chr20:1281004(Fwd)	downstream_gene_variant; intron_variant
rs17791711	Chr20:58803299(Fwd)	intron_variant; nc_transcript_variant
rs3818331	Chr20:1281685(Fwd)	downstream_gene_variant; intron_variant
rs1044396	Chr20:61981134(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant
rs6100803	Chr20:58807046(Fwd)	intron_variant; nc_transcript_variant
rs6100804	Chr20:58807932(Fwd)	intron_variant; nc_transcript_variant
rs11698869	Chr20:58818791(Fwd)	intron_variant; nc_transcript_variant
rs11907758	Chr20:58819636(Fwd)	intron_variant; nc_transcript_variant
rs6027417	Chr20:58797699(Fwd)	intron_variant; nc_transcript_variant
rs4812161	Chr20:58829160(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs16997340	Chr20:51574665(Fwd)
rs16997342	Chr20:51574683(Fwd)
rs11905478	Chr20:51556035(Fwd)
rs16997309	Chr20:51565207(Fwd)
rs11906596	Chr20:51584540(Fwd)	upstream_gene_variant
rs11908686	Chr20:51584562(Fwd)	upstream_gene_variant
rs6069675	Chr20:54834133(Fwd)
rs13040133	Chr20:51585125(Fwd)	upstream_gene_variant
rs912998	Chr20:54836871(Fwd)
rs2094182	Chr20:54848147(Fwd)	downstream_gene_variant
rs362574	Chr20:10253082(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6039807	Chr20:10263576(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs2236554	Chr20:4202041(Fwd)	3_prime_UTR_variant
rs6108461	Chr20:10267270(Fwd)	intron_variant; nc_transcript_variant
rs362598	Chr20:10290528(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs362554	Chr20:10300961(Fwd)	intron_variant; nc_transcript_variant
rs12625519	Chr20:10301452(Fwd)	intron_variant; nc_transcript_variant
rs6133861	Chr20:10304269(Fwd)	intron_variant; nc_transcript_variant
rs6032829	Chr20:10230291(Fwd)	intron_variant; nc_transcript_variant
rs6133862	Chr20:10304333(Fwd)	intron_variant; nc_transcript_variant
rs6133863	Chr20:10304419(Fwd)	intron_variant; nc_transcript_variant
rs362551	Chr20:10295436(Fwd)	intron_variant; nc_transcript_variant
rs6131075	Chr20:10305562(Fwd)	intron_variant; nc_transcript_variant
rs2423492	Chr20:10334478(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6039847	Chr20:10306503(Fwd)	intron_variant; nc_transcript_variant
rs4813932	Chr20:10336912(Fwd)	intron_variant; nc_transcript_variant
rs6039848	Chr20:10306574(Fwd)	intron_variant; nc_transcript_variant
rs2423497	Chr20:10342441(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6039851	Chr20:10307085(Fwd)	intron_variant; nc_transcript_variant
rs6108509	Chr20:10340058(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs362613	Chr20:10310342(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs6108469	Chr20:10304374(Fwd)	intron_variant; nc_transcript_variant
rs6108470	Chr20:10304541(Fwd)	intron_variant; nc_transcript_variant
rs363018	Chr20:10236231(Fwd)	intron_variant; nc_transcript_variant
rs362547	Chr20:10245139(Fwd)	intron_variant; nc_transcript_variant
rs362548	Chr20:10246815(Fwd)	intron_variant; nc_transcript_variant
rs6039795	Chr20:10248123(Fwd)	intron_variant; nc_transcript_variant
rs6077706	Chr20:10240238(Fwd)	intron_variant; nc_transcript_variant
rs6074113	Chr20:10242011(Fwd)	intron_variant; nc_transcript_variant
rs6032832	Chr20:10241394(Fwd)	intron_variant; nc_transcript_variant
rs6039793	Chr20:10241483(Fwd)	intron_variant; nc_transcript_variant
rs4813024	Chr20:10237816(Fwd)	intron_variant; nc_transcript_variant
rs362990	Chr20:10276221(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16991334	Chr20:10261917(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs362602	Chr20:10293528(Fwd)	intron_variant; nc_transcript_variant
rs3025879	Chr20:10292077(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs362600	Chr20:10292231(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6108466	Chr20:10294027(Fwd)	intron_variant; nc_transcript_variant
rs1984831	Chr20:10294521(Fwd)	intron_variant; nc_transcript_variant
rs1984830	Chr20:10294596(Fwd)	intron_variant; nc_transcript_variant
rs3025887	Chr20:10301014(Fwd)	intron_variant; nc_transcript_variant
rs6039820	Chr20:10282027(Fwd)	intron_variant; nc_transcript_variant
rs6077718	Chr20:10261142(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6077712	Chr20:10250288(Fwd)	intron_variant; nc_transcript_variant
rs2425016	Chr20:33807249(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs4510293	Chr20:10257761(Fwd)	intron_variant; nc_transcript_variant
rs6014658	Chr20:54833538(Fwd)
rs2425021	Chr20:33829778(Fwd)	intron_variant; nc_transcript_variant
rs6077719	Chr20:10261759(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs913002	Chr20:54835015(Fwd)
rs2425022	Chr20:33831187(Fwd)	intron_variant; nc_transcript_variant
rs6077722	Chr20:10266088(Fwd)	intron_variant; nc_transcript_variant
rs913001	Chr20:54835406(Fwd)
rs2247828	Chr20:33839939(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs362588	Chr20:10270925(Fwd)	intron_variant; nc_transcript_variant
rs912999	Chr20:54836630(Fwd)
rs1409224	Chr20:54841700(Fwd)	upstream_gene_variant
rs2425027	Chr20:33849390(Fwd)	intron_variant; nc_transcript_variant
rs12480983	Chr20:10278715(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6099060	Chr20:54831122(Fwd)
rs1326023	Chr20:54842378(Fwd)	upstream_gene_variant
rs2425032	Chr20:33855454(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs16991242	Chr20:10184604(Fwd)	intron_variant; nc_transcript_variant
rs6099065	Chr20:54846827(Fwd)	downstream_gene_variant
rs2425037	Chr20:33856429(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs363030	Chr20:10218139(Fwd)	intron_variant; nc_transcript_variant
rs2094183	Chr20:54848289(Fwd)	downstream_gene_variant
rs1205411	Chr20:33857242(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs363015	Chr20:10228699(Fwd)	intron_variant; nc_transcript_variant
rs6069689	Chr20:54858425(Fwd)
rs2425046	Chr20:33871661(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs363016	Chr20:10231174(Fwd)	intron_variant; nc_transcript_variant
rs2182356	Chr20:54859034(Fwd)
rs2425048	Chr20:33872723(Fwd)	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs12626080	Chr20:10233052(Fwd)	intron_variant; nc_transcript_variant
rs6069690	Chr20:54861043(Fwd)
rs6579227	Chr20:33879206(Fwd)	intron_variant
rs6039792	Chr20:10234092(Fwd)	intron_variant; nc_transcript_variant
rs6069692	Chr20:54861281(Fwd)
rs6024768	Chr20:54863750(Fwd)
rs8122798	Chr20:54865811(Fwd)
rs1926069	Chr20:54866110(Fwd)	downstream_gene_variant

CNV (count: 6)

ID	Band	Size	Type	Inheritance	Related Genes
CNV_Elia[2010]_209	20p12.2	150884	Duplication	Paternal	PAK7
CNV_Elia[2010]_210	20p12.1	39933	Deletion (hemizygous)	Maternal	MACROD2
CNV_Elia[2010]_211	20q13.33	36935	Deletion (hemizygous)	Maternal	CDH4
CNV_Elia[2010]_212	20p12.1	23026	Deletion (hemizygous)	Maternal	MACROD2
CNV_Williams[2010]_25	20p12.1	1394171	Gain		C20orf7 ESF1 GAPDHP2 ISM1 MACROD2 MRPS36P6 RPS3P1 SCYE1P SEL1L2 SPTLC3 TASP1 TRNAE43P
CNV_Williams[2010]_35	20p13	803887	Loss	De novo	ADAM33 ATRN C20orf194 C20orf27 C20orf29 CDC25B CENPB DDRGK1 FASTKD5 GFRA4 HSPA12B ITPA MAVS PANK2 ProSAPiP1 SIGLEC1 SLC4A11 SPEF1 UBOX5

Gene (count: 62)

Literature-origin genes (count: 6)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
SNAP25	synaptosomal-associated protein, 25kDa	20p12-p11.2	18(13/5/0)
CHRNA4	cholinergic receptor, nicotinic, alpha 4	20	7(4/3/0)
MACROD2	MACRO domain containing 2	20p12.1	1(0/0/1)
ADRA1D	adrenergic, alpha-1D-, receptor	20p13	1(0/1/0)
MMP24	matrix metallopeptidase 24 (membrane-inserted)	20q11.2	1(0/0/1)
SNPH	syntaphilin	20p13	1(1/0/0)

Genes from other sources (count: 56)

Approved Symbol	Approved Name	Location
NCOA6	nuclear receptor coactivator 6	20q11
TASP1	taspase, threonine aspartase, 1	20p12
FASTKD5	FAST kinase domains 5	20p13
C20orf108	chromosome 20 open reading frame 108	20
FLRT3	fibronectin leucine rich transmembrane protein 3	20p11
EDEM2	ER degradation enhancer, mannosidase alpha-like 2	20q11.22
GAPDHP2	glyceraldehyde-3-phosphate dehydrogenase pseudogene 2	20p12.1
GFRA4	GDNF family receptor alpha 4	20p13-p12
PRPF6	PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)	20q13.33
PAK7	p21 protein (Cdc42/Rac)-activated kinase 7	20p12
PANK2	pantothenate kinase 2	20p13
EIF6	eukaryotic translation initiation factor 6	20q11.2
ADAM33	ADAM metallopeptidase domain 33	20p13
MMP24-AS1	MMP24 antisense RNA 1	20q11.22
TRNAE43P	transfer RNA glutamic acid 43 (anticodon CUC) pseudogene	20p12.1
FAM210B	family with sequence similarity 210, member B	20q13.2
FAM83C	family with sequence similarity 83, member C	20q11.22
FAM83C-AS1	FAM83C antisense RNA 1	20
HIGD1AP15	HIG1 hypoxia inducible domain family, member 1A pseudogene 15	20p12.2
RPL23AP6	ribosomal protein L23a pseudogene 6	20p12.2
SNRPB	small nuclear ribonucleoprotein polypeptides B and B1	20p13
ATRN	attractin	20p13
SNRPB2	small nuclear ribonucleoprotein polypeptide B	20p12.1
SDCBP2	syndecan binding protein (syntenin) 2	20p13
HSPA12B	heat shock 70kD protein 12B	20p13
SNAP25-AS1	SNAP25 antisense RNA 1	20p12.2
STX16	syntaxin 16	20q13.32
UBOX5	U-box domain containing 5	20p13
TSHZ2	teashirt zinc finger homeobox 2	20q13.2
ISM1	isthmin 1 homolog (zebrafish)	20p12.1
ITPA	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	20p
ProSAPiP1	ProSAP-interacting protein 1	20p13
C20orf194	chromosome 20 open reading frame 194	20p13
C20orf27	chromosome 20 open reading frame 27	20p13
C20orf29	chromosome 20 open reading frame 29	20p13
C20orf7	chromosome 20 open reading frame 7	20p12.1
MT1P3	metallothionein 1 pseudogene 3	20q11.22
NCRNA00154	non-protein coding RNA 154	20
MAVS	mitochondrial antiviral signaling protein	20p13
CDC25B	cell division cycle 25 homolog B (S. pombe)	20p13
CDH4	cadherin 4, type 1, R-cadherin (retinal)	20q13.3
CENPB	centromere protein B, 80kDa	20p13
RPS3P1	ribosomal protein S3 pseudogene 1	20p12
RAD21L1	RAD21-like 1 (S. pombe)	20p13
MRPS36P6	mitochondrial ribosomal protein S36 pseudogene 6	20p12.1
SCYE1P	small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) pseudogene	20
SEL1L2	sel-1 suppressor of lin-12-like 2 (C. elegans)	20p12.1
CEP250	centrosomal protein 250kDa	20q11.22
SIGLEC1	sialic acid binding Ig-like lectin 1, sialoadhesin	20p13
DDRGK1	DDRGK domain containing 1	20p13
SLC4A11	solute carrier family 4, sodium borate transporter, member 11	20p12
ERGIC3	ERGIC and golgi 3	20pter-q12
SPEF1	sperm flagellar 1	20
SPTLC3	serine palmitoyltransferase, long chain base subunit 3	20p12.1
MAPRE1	microtubule-associated protein, RP/EB family, member 1	20q11.1-q11.3
ESF1	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	20p12.1

Region (count: 1)

Region Name	Location	No. of Studies (postive/negative/trend)
20q13	chr20:41700000-63025520	2 (0/1/1)

View in gBrowse

Region: chr20:0..63025520 View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)