rs2812431

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0229 (6856/29938,GnomAD)
T=0195 (5692/29118,TOPMED)
T=0245 (1229/5008,1000G)
T=0294 (1133/3854,ALSPAC)
T=0294 (1089/3708,TWINSUK)
chr10:77789484 (GRCh38.p7) (10q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
21 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.77789484C>T
GRCh37.p13 chr 10NC_000010.10:g.79549242C>T
DLG5 RefSeqGeneNG_011484.1:g.142107G>A
GRCh38.p7 chr 10 alt locus HSCHR10_1_CTG4NT_187580.1:g.28176C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.952T=0.048
1000GenomesAmericanSub694C=0.540T=0.460
1000GenomesEast AsianSub1008C=0.709T=0.291
1000GenomesEuropeSub1006C=0.719T=0.281
1000GenomesGlobalStudy-wide5008C=0.755T=0.245
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.706T=0.294
The Genome Aggregation DatabaseAfricanSub8724C=0.912T=0.088
The Genome Aggregation DatabaseAmericanSub838C=0.560T=0.440
The Genome Aggregation DatabaseEast AsianSub1618C=0.722T=0.278
The Genome Aggregation DatabaseEuropeSub18456C=0.717T=0.282
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.771T=0.229
The Genome Aggregation DatabaseOtherSub302C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.804T=0.195
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.706T=0.294
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
rs28124310.000142alcohol dependence21314694

eQTL of rs2812431 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr10:79549242DLG5ENSG00000151208.12C>T3.6268e-14-137136Cerebellum
Chr10:79549242DLG5ENSG00000151208.12C>T8.3779e-6-137136Cerebellar_Hemisphere

meQTL of rs2812431 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 )
chr107958450879584584E06735266
chr107959515479595246E06745912
chr107959539379595468E06746151
chr107959547079595721E06746228
chr107959539379595468E06946151
chr107959547079595721E06946228
chr107959703979597098E06947797
chr107959722179598197E06947979
chr107959722179598197E07047979
chr107959515479595246E07245912
chr107959539379595468E07246151
chr107959547079595721E07246228
chr107959515479595246E08145912
chr107959539379595468E08146151
chr107959547079595721E08146228
chr107959586979596593E08146627
chr107959722179598197E08147979
chr107959515479595246E08245912
chr107959539379595468E08246151
chr107959547079595721E08246228
chr107959586979596593E08246627