rs12705988

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0458 (13716/29944,GnomAD)
G=0472 (13770/29118,TOPMED)
G=0462 (2316/5008,1000G)
G=0415 (1599/3854,ALSPAC)
G=0430 (1594/3708,TWINSUK)
chr7:114714947 (GRCh38.p7) (7q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.114714947A>G
GRCh37.p13 chr 7NC_000007.13:g.114355002A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.406G=0.594
1000GenomesAmericanSub694A=0.650G=0.350
1000GenomesEast AsianSub1008A=0.524G=0.476
1000GenomesEuropeSub1006A=0.581G=0.419
1000GenomesGlobalStudy-wide5008A=0.538G=0.462
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.585G=0.415
The Genome Aggregation DatabaseAfricanSub8714A=0.440G=0.560
The Genome Aggregation DatabaseAmericanSub838A=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1614A=0.511G=0.489
The Genome Aggregation DatabaseEuropeSub18476A=0.585G=0.414
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.541G=0.458
The Genome Aggregation DatabaseOtherSub302A=0.660G=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.527G=0.472
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.570G=0.430
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
rs127059880.000645alcohol dependence21314694

eQTL of rs12705988 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 rs12705988 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 )
chr7114328388114328817E070-26185
chr7114380082114380306E07025080
chr7114380353114380460E07025351
chr7114380714114380787E07025712
chr7114381913114382039E07026911
chr7114382072114382215E07027070
chr7114382469114382538E07027467
chr7114398984114399034E07043982
chr7114399142114399271E07044140
chr7114399314114399752E07044312
chr7114399812114400050E07044810
chr7114399812114400050E07144810
chr7114380714114380787E08125712