rs9944350

Homo sapiens
A>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0340 (10183/29898,GnomAD)
T=0423 (12333/29118,TOPMED)
T=0478 (2393/5008,1000G)
T=0146 (562/3854,ALSPAC)
T=0128 (473/3708,TWINSUK)
chr16:82214277 (GRCh38.p7) (16q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.82214277A>T
GRCh37.p13 chr 16NC_000016.9:g.82247882A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.207T=0.793
1000GenomesAmericanSub694A=0.530T=0.470
1000GenomesEast AsianSub1008A=0.596T=0.404
1000GenomesEuropeSub1006A=0.848T=0.152
1000GenomesGlobalStudy-wide5008A=0.522T=0.478
1000GenomesSouth AsianSub978A=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.854T=0.146
The Genome Aggregation DatabaseAfricanSub8684A=0.287T=0.713
The Genome Aggregation DatabaseAmericanSub836A=0.490T=0.510
The Genome Aggregation DatabaseEast AsianSub1620A=0.646T=0.354
The Genome Aggregation DatabaseEuropeSub18456A=0.841T=0.158
The Genome Aggregation DatabaseGlobalStudy-wide29898A=0.659T=0.340
The Genome Aggregation DatabaseOtherSub302A=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.576T=0.423
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.872T=0.128
PMID Title Author Journal
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
rs99443501.72E-05alcohol consumption23743675

eQTL of rs9944350 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 rs9944350 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 )
chr168220238182202446E067-45436
chr168222352982224363E068-23519
chr168228172782281834E06833845
chr168228194582282010E06834063
chr168228202682282077E06834144
chr168228228182282335E06834399
chr168228239182282510E06834509
chr168229704082297136E06949158
chr168220238182202446E070-45436
chr168220238182202446E071-45436
chr168220467882204761E071-43121
chr168222352982224363E071-23519
chr168229704082297136E07149158
chr168220238182202446E072-45436
chr168220238182202446E074-45436
chr168222281782223046E074-24836
chr168222352982224363E074-23519
chr168220238182202446E081-45436
chr168220467882204761E081-43121








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr168220320982204552E067-43330
chr168220320982204552E068-43330
chr168220320982204552E069-43330
chr168220320982204552E070-43330
chr168220320982204552E071-43330
chr168220320982204552E072-43330
chr168220320982204552E073-43330
chr168220320982204552E074-43330
chr168220320982204552E081-43330
chr168220320982204552E082-43330