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 = chr19

SNP: 65
CNV: 9
Gene: 41

SNP (count: 65)

Literature-origin SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs9676447	Chr19:49424247(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	3(0/2/1)
rs4804149	Chr19:11284028(Fwd)	intron_variant; upstream_gene_variant	1(0/1/0)
rs4806874	Chr19:2738352(Fwd)	intron_variant; nc_transcript_variant	1(0/1/0)
rs10421632	Chr19:57764770(Fwd)	missense_variant	1(0/0/1)
rs260461	Chr19:58770883(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)
rs2014572	Chr19:57760018(Fwd)	5_prime_UTR_variant; missense_variant	1(0/0/1)

LD-proxies (count: 59)

rs_ID	Location	Functional Annotation
rs10418480	Chr19:57755055(Fwd)	intron_variant
rs7248000	Chr19:57762139(Fwd)	intron_variant
rs8106734	Chr19:57763546(Fwd)	intron_variant
rs4801452	Chr19:57768066(Fwd)	downstream_gene_variant; upstream_gene_variant
rs10412975	Chr19:57770554(Fwd)	downstream_gene_variant; upstream_gene_variant
rs10413037	Chr19:57771883(Fwd)	upstream_gene_variant
rs10405008	Chr19:57753643(Fwd)	intron_variant
rs10427146	Chr19:57755998(Fwd)	intron_variant
rs11084492	Chr19:57756026(Fwd)	intron_variant
rs7259978	Chr19:57756129(Fwd)	intron_variant
rs3746231	Chr19:57760057(Fwd)	5_prime_UTR_variant; missense_variant
rs11667407	Chr19:57763122(Fwd)	intron_variant
rs10413671	Chr19:57763489(Fwd)	intron_variant
rs12460702	Chr19:57717532(Fwd)	intron_variant
rs12460381	Chr19:57720137(Fwd)	intron_variant
rs10414299	Chr19:57725115(Fwd)	downstream_gene_variant
rs11879048	Chr19:57728136(Fwd)	downstream_gene_variant
rs13345715	Chr19:57731443(Fwd)
rs6510050	Chr19:57734848(Fwd)
rs10408146	Chr19:57735816(Fwd)
rs7252399	Chr19:57748905(Fwd)	downstream_gene_variant; upstream_gene_variant
rs8111661	Chr19:57752326(Fwd)	intron_variant
rs10406954	Chr19:57762249(Fwd)	intron_variant
rs10415216	Chr19:57772069(Fwd)	upstream_gene_variant
rs10415639	Chr19:57772232(Fwd)	upstream_gene_variant
rs3826970	Chr19:57774272(Fwd)	downstream_gene_variant
rs10414184	Chr19:57779521(Fwd)	intron_variant; nc_transcript_variant
rs759071	Chr19:2728577(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs10407667	Chr19:2731527(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs759073	Chr19:2732986(Fwd)	downstream_gene_variant; intron_variant; synonymous_variant; upstream_gene_variant
rs10415622	Chr19:2739696(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2302490	Chr19:2740229(Fwd)	upstream_gene_variant
rs7252598	Chr19:2748597(Fwd)
rs10409851	Chr19:2726199(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs7257863	Chr19:2746519(Fwd)
rs8109943	Chr19:2749427(Fwd)
rs7008	Chr19:2754978(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs1860938	Chr19:2760878(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs4807325	Chr19:2763223(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2110118	Chr19:2775144(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs1640262	Chr19:2779134(Fwd)	intron_variant; nc_transcript_variant
rs1736188	Chr19:2782368(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs7255506	Chr19:2748243(Fwd)
rs260486	Chr19:58753937(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs260484	Chr19:58758451(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260452	Chr19:58766874(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260453	Chr19:58767151(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260454	Chr19:58767168(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260456	Chr19:58767565(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260457	Chr19:58767697(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs260462	Chr19:58774071(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; upstream_gene_variant
rs260468	Chr19:58776630(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs392644	Chr19:58780503(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2449632	Chr19:58781379(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs439333	Chr19:58783027(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs11881516	Chr19:58757182(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant
rs8112042	Chr19:49417658(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs8109659	Chr19:57755508(Fwd)	intron_variant
rs8108576	Chr19:57758607(Fwd)	intron_variant

CNV (count: 9)

ID	Band	Size	Type	Inheritance	Related Genes
CNV_Elia[2010]_203	19p13.2	42268	Deletion (hemizygous)	Paternal	EMR4P
CNV_Elia[2010]_204	19p13.2	44943	Deletion (hemizygous)	Paternal	EMR4P
CNV_Elia[2010]_205	19p12	263825	Deletion (hemizygous)	Paternal	ZNF257 ZNF676
CNV_Elia[2010]_206	19p13.2	42268	Deletion (hemizygous)	Maternal	EMR4P
CNV_Elia[2010]_207	19p13.3	56363	Deletion (hemizygous)	Paternal	ZNF57 ZNF77
CNV_Elia[2010]_208	19p13.2	42268	Deletion (hemizygous)	Maternal	EMR4P
CNV_Elia[2012]_9	19q13.11	17115	Del	2:2:1(80%)	SLC7A10
CNV_Elia[2012]_13	19p13.12	5245	Del		LOC126536
CNV_Elia[2012]_17	19q13.42	4642	Dup		LILRA6 LILRB3 RPS9

Gene (count: 41)

Literature-origin genes (count: 6)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
KANK2	KN motif and ankyrin repeat domains 2	19p13.2	1(0/1/0)
SLC7A10	solute carrier family 7, (neutral amino acid transporter, y+ system) member 10	19q13.1	1(1/0/0)
NUCB1	nucleobindin 1	19q13.33	1(0/0/1)
SLC39A3	solute carrier family 39 (zinc transporter), member 3	19p13.3	1(0/1/0)
ZNF544	zinc finger protein 544	19q13.43	1(0/0/1)
ZNF805	zinc finger protein 805	19q13.43	1(0/0/1)

Genes from other sources (count: 35)

Approved Symbol	Approved Name	Location
AURKC	aurora kinase C	19q13.3-qter
NUP62	nucleoporin 62kDa	19
ZNF264	zinc finger protein 264	19q13.4
PLA2G4C	phospholipase A2, group IVC (cytosolic, calcium-independent)	19q13.3
PLD3	phospholipase D family, member 3	19q13.2
DIRAS1	DIRAS family, GTP-binding RAS-like 1	19p13.3
RYR1	ryanodine receptor 1 (skeletal)	19q13.1
NUCB1-AS1	NUCB1 antisense RNA 1	19
SF3A2	splicing factor 3a, subunit 2, 66kDa	19p13.3-p13.2
SNRPA	small nuclear ribonucleoprotein polypeptide A	19q13.1
SNRPD2	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	19q13.2-q13.3
U2AF2	U2 small nuclear RNA auxiliary factor 2	19q13.43
USE1	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	19p13.11
LILRA6	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	19q13.4
LILRB3	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	19q13.4
ZNF257	zinc finger protein 257	19p13
LOC126536	long intergenic non-protein coding RNA 661 [VALIDATED RefSeq, miscRNA]	19p13.12
ZNF57	zinc finger protein 57	19p13.3
ZNF676	zinc finger protein 676	19p12
ZNF77	zinc finger protein 77	19p13.3
APOC2	apolipoprotein C-II	19q13.2
CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13
RPS9	ribosomal protein S9	19q13.4
CDC42EP5	CDC42 effector protein (Rho GTPase binding) 5	19q13.42
COPE	coatomer protein complex, subunit epsilon	19p13.11
SGTA	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	19p13
LGALS13	lectin, galactoside-binding, soluble, 13	19q13.1
LIPE	lipase, hormone-sensitive	19q13.1-q13.2
THOP1	thimet oligopeptidase 1	19p13.3
LSM4	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	19p13.1
MAP1S	microtubule-associated protein 1S	19p13.12
MARK4	MAP/microtubule affinity-regulating kinase 4	19q13.2
MED16	mediator complex subunit 16	19p13.3
EMR4P	egf-like module containing, mucin-like, hormone receptor-like 4 pseudogene	19
NAPA	N-ethylmaleimide-sensitive factor attachment protein, alpha	19q13.33

View in gBrowse

Region: chr19:0..59128983 View in gBrowse
(The coordinate of the CNV has been transformed to NCBI Build 37 (hg19) in gBrowse)