rs9992640

Homo sapiens
A>G
LOC101929210 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0197 (5917/29950,GnomAD)
G=0200 (5823/29118,TOPMED)
G=0203 (1017/5008,1000G)
G=0173 (668/3854,ALSPAC)
G=0184 (682/3708,TWINSUK)
chr4:94137142 (GRCh38.p7) (4q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.94137142A>G
GRCh37.p13 chr 4NC_000004.11:g.95058293A>G

Gene: LOC101929210, uncharacterized LOC101929210(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101929210 transcriptNR_125922.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.791G=0.209
1000GenomesAmericanSub694A=0.690G=0.310
1000GenomesEast AsianSub1008A=0.797G=0.203
1000GenomesEuropeSub1006A=0.822G=0.178
1000GenomesGlobalStudy-wide5008A=0.797G=0.203
1000GenomesSouth AsianSub978A=0.850G=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.827G=0.173
The Genome Aggregation DatabaseAfricanSub8718A=0.802G=0.198
The Genome Aggregation DatabaseAmericanSub836A=0.690G=0.310
The Genome Aggregation DatabaseEast AsianSub1620A=0.817G=0.183
The Genome Aggregation DatabaseEuropeSub18474A=0.805G=0.194
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.802G=0.197
The Genome Aggregation DatabaseOtherSub302A=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.800G=0.200
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.816G=0.184
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
rs99926400.00088alcohol dependence20201924
rs99926400.00091Alcohol dependence (early age of onset)20201924

eQTL of rs9992640 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 rs9992640 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr49510726195107419E06748968
chr49510726195107419E06948968
chr49510726195107419E07148968