rs11950687

Homo sapiens
T>G
LOC105374634 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0066 (1993/29970,GnomAD)
G=0108 (3162/29118,TOPMED)
G=0075 (378/5008,1000G)
G=0012 (48/3854,ALSPAC)
G=0008 (31/3708,TWINSUK)
chr5:5689233 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5689233T>G
GRCh37.p13 chr 5NC_000005.9:g.5689346T>G

Gene: LOC105374634, uncharacterized LOC105374634(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374634 transcript variant X1XR_001742494.1:n.N/AIntron Variant
LOC105374634 transcript variant X2XR_001742495.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.738G=0.262
1000GenomesAmericanSub694T=0.980G=0.020
1000GenomesEast AsianSub1008T=1.000G=0.000
1000GenomesEuropeSub1006T=0.985G=0.015
1000GenomesGlobalStudy-wide5008T=0.925G=0.075
1000GenomesSouth AsianSub978T=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.988G=0.012
The Genome Aggregation DatabaseAfricanSub8706T=0.787G=0.213
The Genome Aggregation DatabaseAmericanSub838T=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1622T=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18502T=0.994G=0.005
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.933G=0.066
The Genome Aggregation DatabaseOtherSub302T=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.891G=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.992G=0.008
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs119506871.81E-05alcohol consumption23953852

eQTL of rs11950687 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 rs11950687 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 )
chr557106325710892E06721286
chr557109885711110E06721642
chr557111915711374E06721845
chr556666105666862E070-22484
chr557106325710892E07021286
chr557109885711110E07021642
chr557111915711374E07021845
chr556444875644732E082-44614