rs10955242

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0127 (3812/29942,GnomAD)
A=0140 (4097/29118,TOPMED)
A=0174 (870/5008,1000G)
A=0060 (231/3854,ALSPAC)
A=0048 (179/3708,TWINSUK)
chr8:100801402 (GRCh38.p7) (8q22.3)
AD
GWASdb2
2   publication(s)
See rs on genome
20 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.100801402G>A
GRCh37.p13 chr 8NC_000008.10:g.101813630G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.756A=0.244
1000GenomesAmericanSub694G=0.800A=0.200
1000GenomesEast AsianSub1008G=0.712A=0.288
1000GenomesEuropeSub1006G=0.948A=0.052
1000GenomesGlobalStudy-wide5008G=0.826A=0.174
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.940A=0.060
The Genome Aggregation DatabaseAfricanSub8708G=0.763A=0.237
The Genome Aggregation DatabaseAmericanSub836G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1610G=0.686A=0.314
The Genome Aggregation DatabaseEuropeSub18486G=0.942A=0.057
The Genome Aggregation DatabaseGlobalStudy-wide29942G=0.872A=0.127
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.859A=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.952A=0.048
PMID Title Author Journal
21989058Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).Qin YHum Mol Genet
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs109552429.1E-05alcohol consumption23743675

eQTL of rs10955242 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 rs10955242 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 )
chr8101773554101775046E068-38584
chr8101847470101848214E06833840
chr8101764400101764498E071-49132
chr8101764560101764751E071-48879
chr8101764770101764823E071-48807
chr8101803597101803661E072-9969
chr8101803758101804338E074-9292
chr8101804391101804510E074-9120
chr8101847470101848214E07433840
chr8101848259101848339E07434629
chr8101859230101859295E07445600
chr8101775773101775823E081-37807
chr8101775832101775882E081-37748
chr8101775951101776079E081-37551
chr8101803597101803661E081-9969
chr8101803758101804338E081-9292
chr8101804391101804510E081-9120
chr8101851627101851825E08137997
chr8101851845101851917E08138215
chr8101775334101775644E082-37986