rs6912805

Homo sapiens
T>C
TMEM244 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0351 (10528/29934,GnomAD)
C=0412 (12003/29118,TOPMED)
C=0372 (1864/5008,1000G)
C=0339 (1306/3854,ALSPAC)
C=0341 (1263/3708,TWINSUK)
chr6:129834568 (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.129834568T>C
GRCh37.p13 chr 6NC_000006.11:g.130155713T>C

Gene: TMEM244, transmembrane protein 244(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM244 transcriptNM_001010876.1:c.N/AIntron Variant
TMEM244 transcript variant X1XM_011535669.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.514C=0.486
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.775C=0.225
1000GenomesEuropeSub1006T=0.684C=0.316
1000GenomesGlobalStudy-wide5008T=0.628C=0.372
1000GenomesSouth AsianSub978T=0.500C=0.500
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.661C=0.339
The Genome Aggregation DatabaseAfricanSub8710T=0.550C=0.450
The Genome Aggregation DatabaseAmericanSub838T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1612T=0.807C=0.193
The Genome Aggregation DatabaseEuropeSub18474T=0.677C=0.322
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.648C=0.351
The Genome Aggregation DatabaseOtherSub300T=0.600C=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.587C=0.412
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.659C=0.341
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
rs69128050.00014alcohol dependence(early age of onset)20201924
rs69128050.0006alcohol dependence20201924

eQTL of rs6912805 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:130155713TMEM244ENSG00000203756.3T>C4.0651e-5-26979Anterior_cingulate_cortex

meQTL of rs6912805 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 )
chr6130180685130180932E06724972
chr6130181013130181374E06725300
chr6130181479130181638E06725766
chr6130181746130181787E06726033
chr6130187543130187675E06831830
chr6130188434130188550E06832721
chr6130188638130188827E06832925
chr6130186227130186689E06930514
chr6130187543130187675E06931830
chr6130188434130188550E06932721
chr6130188638130188827E06932925
chr6130181013130181374E07125300
chr6130187543130187675E07131830
chr6130188434130188550E07132721
chr6130188638130188827E07132925
chr6130181013130181374E07225300
chr6130181850130181986E07226137
chr6130187543130187675E07231830
chr6130188434130188550E07232721
chr6130188638130188827E07232925
chr6130187543130187675E07431830
chr6130188434130188550E07432721
chr6130188638130188827E07432925
chr6130189010130189431E07433297
chr6130181013130181374E08125300
chr6130181479130181638E08125766
chr6130181746130181787E08126033
chr6130181850130181986E08126137
chr6130189010130189431E08133297
chr6130189563130189713E08133850







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6130182005130182114E06726292
chr6130182117130182912E06726404
chr6130182005130182114E06826292
chr6130182117130182912E06826404
chr6130182005130182114E06926292
chr6130182117130182912E06926404
chr6130182005130182114E07126292
chr6130182117130182912E07126404
chr6130182005130182114E07226292
chr6130182117130182912E07226404
chr6130182005130182114E07326292
chr6130182117130182912E07326404
chr6130182005130182114E07426292
chr6130182117130182912E07426404
chr6130182005130182114E08226292
chr6130182117130182912E08226404