rs12364934

Homo sapiens
T>G
LOC100507205 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0215 (6275/29118,TOPMED)
G=0171 (4872/28436,GnomAD)
G=0218 (1092/5008,1000G)
G=0117 (450/3854,ALSPAC)
G=0108 (399/3708,TWINSUK)
chr11:42225911 (GRCh38.p7) (11p12)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.42225911T>G
GRCh37.p13 chr 11NC_000011.9:g.42247461T>G

Gene: LOC100507205, uncharacterized LOC100507205(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC100507205 transcriptNR_038309.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.629G=0.371
1000GenomesAmericanSub694T=0.850G=0.150
1000GenomesEast AsianSub1008T=0.828G=0.172
1000GenomesEuropeSub1006T=0.896G=0.104
1000GenomesGlobalStudy-wide5008T=0.782G=0.218
1000GenomesSouth AsianSub978T=0.780G=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.883G=0.117
The Genome Aggregation DatabaseAfricanSub8284T=0.678G=0.322
The Genome Aggregation DatabaseAmericanSub782T=0.900G=0.100
The Genome Aggregation DatabaseEast AsianSub1582T=0.838G=0.162
The Genome Aggregation DatabaseEuropeSub17486T=0.897G=0.102
The Genome Aggregation DatabaseGlobalStudy-wide28436T=0.828G=0.171
The Genome Aggregation DatabaseOtherSub302T=0.750G=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.784G=0.215
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.892G=0.108
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
rs123649340.00056alcohol dependence20201924

eQTL of rs12364934 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 rs12364934 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 )
chr114227896142279050E06731500
chr114227923242279350E06731771
chr114227984242279882E06932381
chr114227923242279350E07431771
chr114226121642261334E08113755
chr114226139042261529E08113929