rs4944672

Homo sapiens
C>T
TMEM135 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0170 (5098/29932,GnomAD)
T=0190 (5556/29118,TOPMED)
T=0149 (747/5008,1000G)
T=0134 (518/3854,ALSPAC)
T=0129 (478/3708,TWINSUK)
chr11:87178406 (GRCh38.p7) (11q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.87178406C>T
GRCh37.p13 chr 11NC_000011.9:g.86889448C>T

Gene: TMEM135, transmembrane protein 135(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TMEM135 transcript variant 2NM_001168724.1:c.N/AIntron Variant
TMEM135 transcript variant 1NM_022918.3:c.N/AIntron Variant
TMEM135 transcript variant 3NR_033149.1:n.N/AIntron Variant
TMEM135 transcript variant X1XM_017018140.1:c.N/AIntron Variant
TMEM135 transcript variant X2XM_017018141.1:c.N/AIntron Variant
TMEM135 transcript variant X2XM_017018142.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.696T=0.304
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.941T=0.059
1000GenomesEuropeSub1006C=0.878T=0.122
1000GenomesGlobalStudy-wide5008C=0.851T=0.149
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.866T=0.134
The Genome Aggregation DatabaseAfricanSub8704C=0.725T=0.275
The Genome Aggregation DatabaseAmericanSub838C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1620C=0.932T=0.068
The Genome Aggregation DatabaseEuropeSub18468C=0.865T=0.134
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.829T=0.170
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.809T=0.190
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.871T=0.129
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs49446726.42E-05alcohol dependence21703634

eQTL of rs4944672 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 rs4944672 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 )
chr118688415286884221E067-5227
chr118688425486884713E067-4735
chr118688482586884992E067-4456
chr118686671986866835E068-22613
chr118686687386867117E068-22331
chr118688415286884221E071-5227
chr118688425486884713E071-4735
chr118688482586884992E071-4456
chr118688507286885156E071-4292
chr118689895386899200E0719505
chr118686671986866835E074-22613
chr118686687386867117E074-22331
chr118688415286884221E074-5227
chr118688425486884713E074-4735
chr118688482586884992E074-4456
chr118689189186892084E0742443
chr118689812686898547E0748678
chr118689895386899200E0749505