rs9492393

Homo sapiens
T>C
TMEM244 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0350 (42511/121290,ExAC)
C=0354 (10601/29936,GnomAD)
C=0415 (12100/29118,TOPMED)
T==0379 (4932/13006,GO-ESP)
C=0374 (1874/5008,1000G)
C=0339 (1308/3854,ALSPAC)
C=0342 (1267/3708,TWINSUK)
chr6:129833522 (GRCh38.p7) (6q22.33)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.129833522T>C
GRCh37.p13 chr 6NC_000006.11:g.130154667T>C

Gene: TMEM244, transmembrane protein 244(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM244 transcriptNM_001010876.1:c....NM_001010876.1:c.257A>GE [GAA]> G [GGA]Coding Sequence Variant
transmembrane protein 244NP_001010876.1:p....NP_001010876.1:p.Glu86GlyE [Glu]> G [Gly]Missense Variant
TMEM244 transcript variant X1XM_011535669.2:c....XM_011535669.2:c.257A>GE [GAA]> G [GGA]Coding Sequence Variant
transmembrane protein 244 isoform X1XP_011533971.1:p....XP_011533971.1:p.Glu86GlyE [Glu]> G [Gly]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.508C=0.492
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.775C=0.225
1000GenomesEuropeSub1006T=0.684C=0.316
1000GenomesGlobalStudy-wide5008T=0.626C=0.374
1000GenomesSouth AsianSub978T=0.500C=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.661C=0.339
The Exome Aggregation ConsortiumAmericanSub21962T=0.666C=0.333
The Exome Aggregation ConsortiumAsianSub25108T=0.596C=0.403
The Exome Aggregation ConsortiumEuropeSub73312T=0.662C=0.337
The Exome Aggregation ConsortiumGlobalStudy-wide121290T=0.649C=0.350
The Exome Aggregation ConsortiumOtherSub908T=0.640C=0.360
The Genome Aggregation DatabaseAfricanSub8720T=0.543C=0.457
The Genome Aggregation DatabaseAmericanSub836T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1614T=0.805C=0.195
The Genome Aggregation DatabaseEuropeSub18464T=0.676C=0.323
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.645C=0.354
The Genome Aggregation DatabaseOtherSub302T=0.600C=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.584C=0.415
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.658C=0.342
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
rs94923930.00019alcohol dependence(early age of onset)20201924
rs94923930.00069alcohol dependence20201924

eQTL of rs9492393 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:130154667TMEM244ENSG00000203756.3T>C4.0651e-5-28025Anterior_cingulate_cortex

meQTL of rs9492393 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 )
chr6130180685130180932E06726018
chr6130181013130181374E06726346
chr6130181479130181638E06726812
chr6130181746130181787E06727079
chr6130187543130187675E06832876
chr6130188434130188550E06833767
chr6130188638130188827E06833971
chr6130186227130186689E06931560
chr6130187543130187675E06932876
chr6130188434130188550E06933767
chr6130188638130188827E06933971
chr6130181013130181374E07126346
chr6130187543130187675E07132876
chr6130188434130188550E07133767
chr6130188638130188827E07133971
chr6130181013130181374E07226346
chr6130181850130181986E07227183
chr6130187543130187675E07232876
chr6130188434130188550E07233767
chr6130188638130188827E07233971
chr6130187543130187675E07432876
chr6130188434130188550E07433767
chr6130188638130188827E07433971
chr6130189010130189431E07434343
chr6130181013130181374E08126346
chr6130181479130181638E08126812
chr6130181746130181787E08127079
chr6130181850130181986E08127183
chr6130189010130189431E08134343
chr6130189563130189713E08134896







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6130182005130182114E06727338
chr6130182117130182912E06727450
chr6130182005130182114E06827338
chr6130182117130182912E06827450
chr6130182005130182114E06927338
chr6130182117130182912E06927450
chr6130182005130182114E07127338
chr6130182117130182912E07127450
chr6130182005130182114E07227338
chr6130182117130182912E07227450
chr6130182005130182114E07327338
chr6130182117130182912E07327450
chr6130182005130182114E07427338
chr6130182117130182912E07427450
chr6130182005130182114E08227338
chr6130182117130182912E08227450