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 ...

SNP Report

Basic Info

Name	rs3738401 dbSNP Ensembl
Location	chr1:231830295(Fwd)
Variant Alleles	G/A
Ancestral Allele	G
Functional Annotation	3_prime_UTR_variant; 5_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant. Polyphen Annotation: benign(ENST00000295051; ENST00000317586; ENST00000366632' target='_blank'> ENST00000366632; ENST00000366633; ENST00000366636; ENST00000439617; ENST00000535944' target='_blank'> ENST00000535944; ENST00000535983; ENST00000537876; ENST00000539444; ENST00000602281; ENST00000602700' target='_blank'> ENST00000602700; ENST00000602713' target='_blank'> ENST00000602713; ENST00000602822' target='_blank'> ENST00000602822; ENST00000295051; ENST00000366632' target='_blank'> ENST00000366632; ENST00000535944' target='_blank'> ENST00000535944; ENST00000602700' target='_blank'> ENST00000602700; ENST00000602713' target='_blank'> ENST00000602713; ENST00000602822' target='_blank'> ENST00000602822) SIFT Annotation: tolerated(ENST00000295051; ENST00000317586; ENST00000366632' target='_blank'> ENST00000366632; ENST00000366633; ENST00000366636; ENST00000439617; ENST00000535944' target='_blank'> ENST00000535944; ENST00000535983; ENST00000537876; ENST00000539444; ENST00000602281; ENST00000602700' target='_blank'> ENST00000602700; ENST00000602713' target='_blank'> ENST00000602713; ENST00000602822' target='_blank'> ENST00000602822; ENST00000295051; ENST00000366632' target='_blank'> ENST00000366632; ENST00000535944' target='_blank'> ENST00000535944; ENST00000602700' target='_blank'> ENST00000602700; ENST00000602713' target='_blank'> ENST00000602713; ENST00000602822' target='_blank'> ENST00000602822)
Consequence to Transcript	3_prime_UTR_variant(ENST00000422590; ENST00000602567; ENST00000602634; ENST00000602885; ENST00000602956; ENST00000602962) 5_prime_UTR_variant(ENST00000366637) downstream_gene_variant(ENST00000602600) intron_variant(ENST00000602873) missense_variant(ENST00000295051; ENST00000317586; ENST00000366632; ENST00000366633; ENST00000366636; ENST00000439617; ENST00000535944; ENST00000535983; ENST00000537876; ENST00000539444; ENST00000602281; ENST00000602700; ENST00000602713; ENST00000602822) nc_transcript_variant(ENST00000468399) NMD_transcript_variant(ENST00000295051; ENST00000366632; ENST00000535944; ENST00000602700; ENST00000602713; ENST00000602822; ENST00000422590; ENST00000602567; ENST00000602634; ENST00000602885; ENST00000602956; ENST00000602962) non_coding_exon_variant(ENST00000468399)
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Jacobsen, K. K.,2013			chi-square tests P-value=0.47 (OR=1.06;95%CI=0.90-1.26) chi-square tests P-value=0.47 (OR=1.06;95%CI=0.90-1.26)	This SNP was not significant associated with ADHD This SNP was not significant associated with ADHD	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
DISC1	disrupted in schizophrenia 1	1q42.1	1(1/0/0)

Genes from other sources (count: 1)

Approved Symbol	Approved Name	Location
TSNAX-DISC1	TSNAX-DISC1 readthrough (NMD candidate)	1q42.2

SNPs in LD with rs3738401 (count: 32) View in gBrowse (chr1:231820077..231860682 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 32)

rs_ID	Functional Annotation	r²[population]
rs12043433	intron_variant; NMD_transcript_variant	0.818[CEU]
rs12044355	intron_variant; NMD_transcript_variant	0.82[CEU]; 0.875[TSI]; 0.933[ASW]; 0.827[LWK]; 0.83[MEX]
rs12045144	intron_variant; NMD_transcript_variant	0.831[TSI]; 0.83[MEX]
rs11585959	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.863[CEU]; 0.875[TSI]; 0.928[CHB]; 0.939[JPT]; 0.841[GIH]; 0.83[MEX]
rs12034296	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	0.911[CEU]; 0.925[TSI]; 0.863[MEX]
rs12040182	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.818[CEU]
rs1538974	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 0.881[CHD]; 0.879[JPT]; 1.0[GIH]; 1.0[MEX]
rs16854809	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.863[CEU]
rs1572899	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.955[CEU]
rs11589082	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.953[CEU]; 0.924[CHB]; 0.934[JPT]; 1.0[YRI]
rs11585981	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	0.863[CEU]
rs6691979	downstream_gene_variant; intron_variant; NMD_transcript_variant	0.806[CHB]
rs11122322	intron_variant; NMD_transcript_variant	0.863[CEU]; 0.853[TSI]
rs11586191	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]
rs1977797	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.948[CEU]
rs11577035	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.909[CEU]; 0.923[TSI]; 0.933[ASW]; 1.0[CHB]; 0.881[CHD]; 0.939[JPT]; 0.874[GIH]; 0.827[LWK]; 0.83[MEX]
rs17748239	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.909[CEU]; 0.923[TSI]; 0.933[ASW]; 1.0[CHB]; 0.881[CHD]; 0.939[JPT]; 0.874[GIH]; 0.827[LWK]; 0.83[MEX]
rs11122323	intron_variant; NMD_transcript_variant	0.863[CEU]
rs1538975	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]; 1.0[ASW]; 1.0[CHB]; 0.881[CHD]; 0.939[JPT]; 1.0[GIH]; 1.0[MEX]
rs11122321	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.909[CEU]; 0.853[TSI]
rs6667123	intron_variant; NMD_transcript_variant	0.863[CEU]
rs12040259	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.954[CEU]; 0.899[TSI]; 0.867[MEX]
rs11583715	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]; 1.0[TSI]; 1.0[ASW]; 1.0[CHB]; 0.881[CHD]; 0.939[JPT]; 1.0[GIH]; 1.0[MEX]
rs6696914	intron_variant; NMD_transcript_variant	0.863[CEU]; 0.875[TSI]; 0.933[ASW]; 0.827[LWK]; 0.83[MEX]
rs11122324	3_prime_UTR_variant; intron_variant; NMD_transcript_variant	0.81[TSI]
rs10429978	intron_variant; nc_transcript_variant; NMD_transcript_variant	0.954[CEU]
rs12045248	intron_variant; NMD_transcript_variant	0.863[CEU]
rs16854783	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]; 0.925[TSI]; 0.831[GIH]; 0.914[MEX]
rs16854779	intron_variant; nc_transcript_variant; NMD_transcript_variant	1.0[CEU]; 0.925[TSI]; 0.831[GIH]; 0.914[MEX]
rs1954175	intron_variant; NMD_transcript_variant	0.816[CEU]
rs6693517	intron_variant; NMD_transcript_variant	0.857[CEU]
rs10429979	intron_variant; NMD_transcript_variant	0.82[CEU]