rs8005917

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0277 (8293/29914,GnomAD)
T==0252 (7340/29118,TOPMED)
T==0361 (1806/5008,1000G)
T==0330 (1271/3854,ALSPAC)
T==0333 (1236/3708,TWINSUK)
chr14:98586716 (GRCh38.p7) (14q32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.98586716T>C
GRCh37.p13 chr 14NC_000014.8:g.99053053T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.080C=0.920
1000GenomesAmericanSub694T=0.400C=0.600
1000GenomesEast AsianSub1008T=0.762C=0.238
1000GenomesEuropeSub1006T=0.334C=0.666
1000GenomesGlobalStudy-wide5008T=0.361C=0.639
1000GenomesSouth AsianSub978T=0.320C=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.330C=0.670
The Genome Aggregation DatabaseAfricanSub8692T=0.114C=0.886
The Genome Aggregation DatabaseAmericanSub838T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1616T=0.738C=0.262
The Genome Aggregation DatabaseEuropeSub18466T=0.307C=0.692
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.277C=0.722
The Genome Aggregation DatabaseOtherSub302T=0.290C=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.252C=0.747
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.333C=0.667
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs80059171.7E-06alcohol dependence23089632

eQTL of rs8005917 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs8005917 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr149906079599060873E0677742
chr149910076699100816E06747713
chr149910086099100910E06747807
chr149910094599100995E06747892
chr149905920699059303E0686153
chr149905944099059534E0686387
chr149907924499079361E06826191
chr149909976199100012E06846708
chr149910076699100816E06847713
chr149910086099100910E06847807
chr149910094599100995E06847892
chr149905944099059534E0696387
chr149905973499060130E0696681
chr149905944099059534E0706387
chr149905973499060130E0706681
chr149906079599060873E0707742
chr149909976199100012E07046708
chr149910076699100816E07047713
chr149910086099100910E07047807
chr149910094599100995E07047892
chr149910108099101167E07048027
chr149910180599101867E07048752
chr149905944099059534E0716387
chr149910076699100816E07147713
chr149910086099100910E07147807
chr149910094599100995E07147892
chr149906079599060873E0727742
chr149909976199100012E07346708
chr149910076699100816E07347713
chr149905944099059534E0746387
chr149905973499060130E0746681
chr149909976199100012E07446708
chr149910076699100816E07447713








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149909097099091030E06837917
chr149910006099100122E06947007
chr149910017799100238E06947124
chr149910006099100122E07147007
chr149910017799100238E07147124
chr149910006099100122E07247007
chr149910017799100238E07247124