rs17149719

Homo sapiens
T>C
TMEM135 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0095 (2856/29964,GnomAD)
C=0099 (2890/29118,TOPMED)
C=0084 (423/5008,1000G)
C=0099 (383/3854,ALSPAC)
C=0094 (348/3708,TWINSUK)
chr11:87084891 (GRCh38.p7) (11q14.2)
AD
GWASdb2
2   publication(s)
See rs on genome
45 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.87084891T>C
GRCh37.p13 chr 11NC_000011.9:g.86795933T>C

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/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.887C=0.113
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.939C=0.061
1000GenomesEuropeSub1006T=0.908C=0.092
1000GenomesGlobalStudy-wide5008T=0.916C=0.084
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.901C=0.099
The Genome Aggregation DatabaseAfricanSub8710T=0.902C=0.098
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1620T=0.933C=0.067
The Genome Aggregation DatabaseEuropeSub18494T=0.900C=0.099
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.904C=0.095
The Genome Aggregation DatabaseOtherSub302T=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.900C=0.099
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.906C=0.094
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs171497190.000011alcoholism (heaviness of drinking)21529783
rs171497190.000038alcohol dependence21703634

eQTL of rs17149719 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 rs17149719 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 )
chr118674689186747477E067-48456
chr118674757586747842E067-48091
chr118675141086751450E067-44483
chr118675287686752930E068-43003
chr118676858986768655E068-27278
chr118676872886768810E068-27123
chr118676891386769195E068-26738
chr118679412786794383E068-1550
chr118679439986794511E068-1422
chr118682460886824652E06828675
chr118682470886824780E06828775
chr118682578986825945E06829856
chr118674757586747842E069-48091
chr118676872886768810E069-27123
chr118676891386769195E069-26738
chr118674689186747477E071-48456
chr118674757586747842E071-48091
chr118676858986768655E071-27278
chr118676872886768810E071-27123
chr118676891386769195E071-26738
chr118682460886824652E07128675
chr118682470886824780E07128775
chr118682578986825945E07129856
chr118683497386835013E07139040
chr118683534686835410E07139413
chr118683814486838201E07142211
chr118683821486838456E07142281
chr118675141086751450E072-44483
chr118676872886768810E072-27123
chr118676891386769195E072-26738
chr118682520686825278E07229273
chr118682527986825462E07229346
chr118682578986825945E07229856
chr118674689186747477E074-48456
chr118674757586747842E074-48091
chr118675141086751450E074-44483
chr118675287686752930E074-43003
chr118676872886768810E074-27123
chr118676891386769195E074-26738
chr118682520686825278E07429273
chr118682527986825462E07429346
chr118682578986825945E07429856
chr118674757586747842E081-48091
chr118675141086751450E081-44483
chr118675141086751450E082-44483








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr118674793086749638E067-46295
chr118674968386749967E067-45966
chr118674793086749638E068-46295
chr118674968386749967E068-45966
chr118674793086749638E069-46295
chr118674968386749967E069-45966
chr118674793086749638E070-46295
chr118674968386749967E070-45966
chr118674793086749638E071-46295
chr118674968386749967E071-45966
chr118674793086749638E072-46295
chr118674968386749967E072-45966
chr118674793086749638E073-46295
chr118674968386749967E073-45966
chr118674793086749638E074-46295
chr118674968386749967E074-45966
chr118674793086749638E081-46295
chr118674968386749967E081-45966
chr118674793086749638E082-46295
chr118674968386749967E082-45966