rs9932227

Homo sapiens
C>T
LOC105371308 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0487 (14185/29118,TOPMED)
C==0493 (14309/28994,GnomAD)
T=0460 (2303/5008,1000G)
C==0484 (1865/3854,ALSPAC)
C==0462 (1712/3708,TWINSUK)
chr16:63539610 (GRCh38.p7) (16q21)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.63539610C>T
GRCh37.p13 chr 16NC_000016.9:g.63573514C>T

Gene: LOC105371308, uncharacterized LOC105371308(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105371308 transcriptXR_001752232.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.495T=0.505
1000GenomesAmericanSub694C=0.560T=0.440
1000GenomesEast AsianSub1008C=0.555T=0.445
1000GenomesEuropeSub1006C=0.483T=0.517
1000GenomesGlobalStudy-wide5008C=0.540T=0.460
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.484T=0.516
The Genome Aggregation DatabaseAfricanSub8522C=0.504T=0.496
The Genome Aggregation DatabaseAmericanSub810C=0.630T=0.370
The Genome Aggregation DatabaseEast AsianSub1590C=0.504T=0.496
The Genome Aggregation DatabaseEuropeSub17776C=0.481T=0.518
The Genome Aggregation DatabaseGlobalStudy-wide28994C=0.493T=0.506
The Genome Aggregation DatabaseOtherSub296C=0.460T=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.512T=0.487
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.462T=0.538
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
rs99322270.000013alcohol dependence20201924
rs99322270.0000131alcoholismpha002893
rs99322270.00015alcohol dependence(Early onset)20201924

eQTL of rs9932227 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 rs9932227 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 )
chr166357185663571936E081-1578
chr166357195063572000E081-1514
chr166357219463572244E081-1270
chr166355033063550754E082-22760