rs853050

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0132 (3941/29768,GnomAD)
C==0119 (3491/29118,TOPMED)
C==0136 (681/5008,1000G)
C==0185 (712/3854,ALSPAC)
C==0173 (642/3708,TWINSUK)
chr7:80990291 (GRCh38.p7) (7q21.11)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.80990291C>T
GRCh37.p13 chr 7NC_000007.13:g.80619607C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.026T=0.974
1000GenomesAmericanSub694C=0.160T=0.840
1000GenomesEast AsianSub1008C=0.185T=0.815
1000GenomesEuropeSub1006C=0.190T=0.810
1000GenomesGlobalStudy-wide5008C=0.136T=0.864
1000GenomesSouth AsianSub978C=0.160T=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.185T=0.815
The Genome Aggregation DatabaseAfricanSub8696C=0.046T=0.954
The Genome Aggregation DatabaseAmericanSub820C=0.170T=0.830
The Genome Aggregation DatabaseEast AsianSub1614C=0.152T=0.848
The Genome Aggregation DatabaseEuropeSub18338C=0.169T=0.830
The Genome Aggregation DatabaseGlobalStudy-wide29768C=0.132T=0.867
The Genome Aggregation DatabaseOtherSub300C=0.170T=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.119T=0.880
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.173T=0.827
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs8530500.000662alcohol dependence21314694

eQTL of rs853050 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 rs853050 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 )
chr78062412380624223E0704516
chr78062704980627623E0707442
chr78062768880627833E0708081
chr78062804980628177E0708442
chr78062838580628971E0708778
chr78063249680633008E07012889
chr78063318980633271E07013582
chr78061407980614349E074-5258
chr78061442680614526E074-5081
chr78061454380614596E074-5011
chr78062662680626818E0817019
chr78062704980627623E0817442
chr78062768880627833E0818081
chr78062804980628177E0818442
chr78062838580628971E0818778
chr78062901280629567E0819405
chr78063144180631491E08111834
chr78063159980632064E08111992
chr78063249680633008E08112889
chr78063318980633271E08113582
chr78063332680633786E08113719
chr78063384880633939E08114241
chr78063419480634246E08114587
chr78063466780634827E08115060
chr78058961880589955E082-29652
chr78062704980627623E0827442
chr78062768880627833E0828081
chr78062804980628177E0828442
chr78062901280629567E0829405
chr78063249680633008E08212889
chr78063318980633271E08213582
chr78063332680633786E08213719