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	rs907094 dbSNP Ensembl
Location	Chr17:37790371(Fwd)
Variant Alleles	G/A
Ancestral Allele	G
Functional Annotation	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000466381) downstream_gene_variant(ENST00000580772; ENST00000582680) intron_variant(ENST00000583446; ENST00000357165; ENST00000394267; ENST00000580825; ENST00000580029; ENST00000579000; ENST00000394271; ENST00000394265; ENST00000466381; ENST00000254079; ENST00000492037) nc_transcript_variant(ENST00000583446; ENST00000580029; ENST00000492037) upstream_gene_variant(ENST00000578577; ENST00000577248; ENST00000583582; ENST00000580551; ENST00000583718; ENST00000578232; ENST00000580611; ENST00000336308; ENST00000585214; ENST00000579479; ENST00000581894; ENST00000578254; ENST00000544210; ENST00000394250)
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
Laurin N, 2008(c)	A/G		P-value=0.933, X² (1 df)=0.007 in the categorical...... P-value=0.933, X² (1 df)=0.007 in the categorical analysis; P-value>0.05 in the quantitative analysis More...	no significant evidence of association no significant evidence of association	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
PPP1R1B	protein phosphatase 1, regulatory (inhibitor) subunit 1B	17	1(0/1/0)

Genes from other sources (count: 1)

Approved Symbol	Approved Name	Location
STARD3	StAR-related lipid transfer (START) domain containing 3	17q11-q12

SNPs in LD with rs907094 (count: 42) View in gBrowse (chr17:37601755..37843681 )

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: 4)

rs_ID	Functional Annotation	#studies(significant/non-significant/trend)	r²[population]

rs2952151	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	1(0/1/0)	0.822[JPT]
rs879606	downstream_gene_variant; upstream_gene_variant	1(0/1/0)	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs1053651	downstream_gene_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)	0.868[CHB]; 0.861[CHD]; 0.887[GIH]; 0.822[JPT]
rs3764352	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/1/0)	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]

LD-proxies (count: 38)

rs_ID	Functional Annotation	r²[population]
rs2247862	downstream_gene_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs12940986	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.823[ASW]; 0.822[JPT]
rs2517957	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.894[JPT]
rs9972882	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.868[CHB]; 0.861[CHD]; 0.822[JPT]
rs881844	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.829[CHB]; 0.822[JPT]
rs11869286	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.814[ASW]; 0.868[CHB]; 0.861[CHD]; 0.895[GIH]; 0.816[JPT]
rs8078228	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.812[JPT]
rs907087	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.822[JPT]
rs12150603	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.823[ASW]; 0.822[JPT]
rs12150298	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs903502	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs2313171	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.806[JPT]
rs2517955	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.823[ASW]
rs931992	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	0.879[ASW]; 0.829[CHB]; 0.839[CHD]; 0.895[GIH]; 0.822[JPT]; 0.923[LWK]; 0.954[MKK]
rs12150047	NMD_transcript_variant; intron_variant; missense_variant	0.83[CEU]
rs2934953	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.85[JPT]
rs4795388	upstream_gene_variant	0.954[CHB]; 0.928[CHD]; 0.951[JPT]
rs14050	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.822[JPT]
rs9303274	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs1476278	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs907089	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs2941505	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs2271309	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]; 1.0[YRI]
rs2517958	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.81[JPT]
rs12453198		0.827[CEU]
rs2941504	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	0.822[JPT]
rs9915323	upstream_gene_variant	0.907[CHB]; 0.855[JPT]
rs2941503	3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant	0.819[JPT]
rs1565922	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	0.816[JPT]
rs11078919	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.822[JPT]
rs8182252		0.923[CEU]
rs1877031	NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.879[ASW]; 0.868[CHB]; 0.861[CHD]; 0.895[GIH]; 0.822[JPT]; 0.923[LWK]; 0.954[MKK]
rs2271308	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.829[CHB]; 0.839[CHD]; 0.863[GIH]; 0.822[JPT]
rs9675194	NMD_transcript_variant; intron_variant; nc_transcript_variant	0.805[GIH]; 0.822[JPT]
rs10852934	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.976[CHD]; 1.0[JPT]
rs903501	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.822[JPT]
rs12453682	upstream_gene_variant	0.82[CHB]; 0.852[CHD]; 0.82[GIH]; 0.847[JPT]; 0.847[LWK]; 0.932[MKK]
rs1874228	upstream_gene_variant	0.823[ASW]; 0.954[CHB]; 0.976[CHD]; 0.866[GIH]; 1.0[JPT]; 0.923[LWK]; 0.871[MKK]