rs7503918

Homo sapiens
C>T
GUCY2D : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0406 (12153/29866,GnomAD)
T=0359 (10469/29118,TOPMED)
T=0470 (2354/5008,1000G)
T=0391 (1506/3854,ALSPAC)
T=0365 (1354/3708,TWINSUK)
chr17:8018707 (GRCh38.p7) (17p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
26 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.8018707C>T
GRCh37.p13 chr 17NC_000017.10:g.7922025C>T
GUCY2D RefSeqGeneNG_009092.1:g.21038C>T

Gene: GUCY2D, guanylate cyclase 2D, retinal(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GUCY2D transcriptNM_000180.3:c.N/AIntron Variant
GUCY2D transcript variant X1XM_011523816.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.700T=0.300
1000GenomesAmericanSub694C=0.450T=0.550
1000GenomesEast AsianSub1008C=0.320T=0.680
1000GenomesEuropeSub1006C=0.625T=0.375
1000GenomesGlobalStudy-wide5008C=0.530T=0.470
1000GenomesSouth AsianSub978C=0.470T=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.609T=0.391
The Genome Aggregation DatabaseAfricanSub8682C=0.690T=0.310
The Genome Aggregation DatabaseAmericanSub836C=0.420T=0.580
The Genome Aggregation DatabaseEast AsianSub1610C=0.286T=0.714
The Genome Aggregation DatabaseEuropeSub18436C=0.582T=0.417
The Genome Aggregation DatabaseGlobalStudy-wide29866C=0.593T=0.406
The Genome Aggregation DatabaseOtherSub302C=0.580T=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.640T=0.359
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.635T=0.365
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs75039186.15E-05alcohol dependence21703634

eQTL of rs7503918 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr17:7922025KCNAB3ENSG00000170049.5C>T4.2814e-2288904Cerebellum
Chr17:7922025KCNAB3ENSG00000170049.5C>T3.7316e-1388904Cerebellar_Hemisphere

meQTL of rs7503918 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 )
chr1778902057890447E067-31578
chr1778904767890598E067-31427
chr1778906337890937E068-31088
chr1778910277891227E068-30798
chr1779606577961511E06938632
chr1778902057890447E070-31578
chr1778904767890598E070-31427
chr1778906337890937E070-31088
chr1778985417898701E070-23324
chr1779606577961511E07138632
chr1779615617961791E07139536
chr1779606577961511E07238632
chr1779615617961791E07239536
chr1778906337890937E073-31088
chr1778910277891227E073-30798
chr1779631767963256E07341151
chr1779452347945331E07423209
chr1779453487945525E07423323
chr1778915907891691E081-30334
chr1778917697891847E081-30178
chr1778919847892875E081-29150
chr1778985417898701E082-23324
chr1778989857899283E082-22742
chr1778993397899416E082-22609
chr1779606577961511E08238632
chr1779615617961791E08239536










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1778929637893983E067-28042
chr1778929637893983E068-28042
chr1778929637893983E069-28042
chr1779192107921116E069-909
chr1778929637893983E070-28042
chr1778929637893983E071-28042
chr1779661707966566E07144145
chr1779666797966850E07144654
chr1778929637893983E072-28042
chr1779064597906513E072-15512
chr1779192107921116E072-909
chr1778929637893983E073-28042
chr1778929637893983E074-28042
chr1778929637893983E082-28042
chr1779060527906168E082-15857
chr1779061977906421E082-15604
chr1779064597906513E082-15512
chr1779065147906627E082-15398
chr1779066537906756E082-15269
chr1779068407906924E082-15101
chr1779191107919206E082-2819