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	rs1801131 dbSNP Ensembl
Location	chr1:11854476(Fwd)
Variant Alleles	T/G
Ancestral Allele	T
Functional Annotation	downstream_gene_variant; missense_variant. Polyphen Annotation: benign(ENST00000376583; ENST00000376585; ENST00000376590; ENST00000376592) SIFT Annotation: tolerated(ENST00000376583; ENST00000376585; ENST00000376590; ENST00000376592)
Consequence to Transcript	downstream_gene_variant(ENST00000312793; ENST00000433342; ENST00000444493; ENST00000449278; ENST00000482358) missense_variant(ENST00000376583; ENST00000376585; ENST00000376590; ENST00000376592)
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
Ergul, E., 2012	A/C		allelic P-value=0.229, X²=2.946, df=2; genotypic ...... allelic P-value=0.229, X²=2.946, df=2; genotypic P-value=0.555, X²=0.349, df=1, OR (95% CI)=0.869 (0.545-1.386) for AA; P-value=0.132, X²=2.264, df=1, OR (95% CI)=1.416 (0.899-2.229); for AC; P-value=0.183, X²=1.772, df=1, OR (95% CI)=0.614 (0.297-1.267) for CC More...	There were no significant allele or genotype differences bet...... There were no significant allele or genotype differences between cases and controls. More...	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	1p36.3	1(0/1/0)

Genes from other sources (count: 1)

Approved Symbol	Approved Name	Location
C1orf167	chromosome 1 open reading frame 167	1p36.22

SNPs in LD with rs1801131 (count: 25) View in gBrowse (chr1:11833366..11899033 )

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: 25)

rs_ID	Functional Annotation	r²[population]
rs1994798	intron_variant	1.0[CHB]; 0.837[CHD]; 0.863[JPT]
rs6541001	intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1.0[YRI]
rs11121828	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	0.931[CHB]; 0.931[CHD]; 0.927[JPT]
rs3818762	downstream_gene_variant; intron_variant	1.0[CHB]; 0.907[YRI]
rs1023252	downstream_gene_variant; intron_variant; missense_variant; upstream_gene_variant	1.0[CHB]; 0.93[CHD]; 0.924[JPT]; 0.865[GIH]
rs198401	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs198393	intron_variant; nc_transcript_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs12121543	intron_variant	0.804[TSI]; 0.857[CHB]; 0.93[CHD]; 0.85[JPT]; 0.802[GIH]; 0.907[YRI]
rs12404124	intron_variant; nc_transcript_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs4845882	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 0.965[CHD]; 1.0[JPT]
rs198408	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs4846054	intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs4846052	downstream_gene_variant; intron_variant	1.0[CHB]; 0.965[CHD]; 1.0[JPT]
rs535107	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs6697244	downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.93[CHB]; 0.93[CHD]; 1.0[JPT]
rs198399	downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CHB]; 1.0[JPT]
rs6541003	intron_variant	1.0[CHB]; 0.965[CHD]; 1.0[JPT]
rs503040	downstream_gene_variant; intron_variant; nc_transcript_variant	1.0[CHB]; 1.0[JPT]
rs1476413	downstream_gene_variant; intron_variant	1.0[CHB]; 0.898[CHD]; 0.927[LWK]; 0.88[MEX]; 0.895[MKK]; 1.0[YRI]
rs12406667	intron_variant; nc_transcript_variant	1.0[CHB]; 1.0[JPT]
rs198406	downstream_gene_variant; intron_variant; upstream_gene_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs7538516	downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.93[CHB]; 0.931[CHD]; 1.0[JPT]
rs6540999	downstream_gene_variant; intron_variant; nc_transcript_variant	0.931[CHB]; 0.931[CHD]; 0.863[JPT]
rs198391	intron_variant; nc_transcript_variant	1.0[CHB]; 0.93[CHD]; 1.0[JPT]
rs4846049	3_prime_UTR_variant; downstream_gene_variant	0.959[CEU]; 1.0[CHB]; 1.0[JPT]