rs12930501

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0330 (9891/29934,GnomAD)
A=0346 (10096/29118,TOPMED)
A=0319 (1596/5008,1000G)
A=0439 (1692/3854,ALSPAC)
A=0429 (1590/3708,TWINSUK)
chr16:52887867 (GRCh38.p7) (16q12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
38 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.52887867G>A
GRCh37.p13 chr 16NC_000016.9:g.52921779G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.771A=0.229
1000GenomesAmericanSub694G=0.760A=0.240
1000GenomesEast AsianSub1008G=0.782A=0.218
1000GenomesEuropeSub1006G=0.551A=0.449
1000GenomesGlobalStudy-wide5008G=0.681A=0.319
1000GenomesSouth AsianSub978G=0.540A=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.561A=0.439
The Genome Aggregation DatabaseAfricanSub8718G=0.765A=0.235
The Genome Aggregation DatabaseAmericanSub836G=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1612G=0.801A=0.199
The Genome Aggregation DatabaseEuropeSub18468G=0.612A=0.387
The Genome Aggregation DatabaseGlobalStudy-wide29934G=0.669A=0.330
The Genome Aggregation DatabaseOtherSub300G=0.500A=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.653A=0.346
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.571A=0.429
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs129305010.0006alcohol dependence20201924

eQTL of rs12930501 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 rs12930501 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 )
chr165290787052907968E067-13811
chr165290798152908316E067-13463
chr165287401452874065E070-47714
chr165287443752874491E070-47288
chr165287476052874800E070-46979
chr165288940752889457E070-32322
chr165288964852889822E070-31957
chr165289501752895227E070-26552
chr165289529152895927E070-25852
chr165289595052896058E070-25721
chr165289608552896297E070-25482
chr165290581952905859E070-15920
chr165290633352906392E070-15387
chr165290669552906947E070-14832
chr165290741252907462E070-14317
chr165290787052907968E070-13811
chr165290798152908316E070-13463
chr165290850152908591E070-13188
chr165290911852909428E070-12351
chr165294309752943221E07021318
chr165294332552943423E07021546
chr165294619952947014E07024420
chr165290787052907968E071-13811
chr165290798152908316E071-13463
chr165290850152908591E071-13188
chr165294619952947014E07124420
chr165290741252907462E074-14317
chr165290787052907968E074-13811
chr165289501752895227E081-26552
chr165289529152895927E081-25852
chr165289595052896058E081-25721
chr165289608552896297E081-25482
chr165291929052919433E081-2346
chr165291949152919800E081-1979
chr165289501752895227E082-26552
chr165289529152895927E082-25852
chr165289595052896058E082-25721
chr165289608552896297E082-25482