rs886277

Homo sapiens
T>C
TRPM5 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0464 (50490/108798,ExAC)
C=0476 (14209/29828,GnomAD)
C=0492 (14344/29118,TOPMED)
T==0462 (6005/12990,GO-ESP)
T==0463 (2317/5008,1000G)
C=0396 (1526/3854,ALSPAC)
C=0369 (1368/3708,TWINSUK)
chr11:2418537 (GRCh38.p7) (11p15.5)
AD
GWASdb2
5   publication(s)
See rs on genome
178 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.2418537T>C
GRCh37.p13 chr 11NC_000011.9:g.2439767T>C

Gene: TRPM5, transient receptor potential cation channel subfamily M member 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TRPM5 transcriptNM_014555.3:c.704A>GN [AAC]> S [AGC]Coding Sequence Variant
transient receptor potential cation channel subfamily M member 5NP_055370.1:p.Asn...NP_055370.1:p.Asn235SerN [Asn]> S [Ser]Missense Variant
TRPM5 transcript variant X1XM_017017628.1:c....XM_017017628.1:c.758A>GN [AAC]> S [AGC]Coding Sequence Variant
transient receptor potential cation channel subfamily M member 5 isoform X1XP_016873117.1:p....XP_016873117.1:p.Asn253SerN [Asn]> S [Ser]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.359C=0.641
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.339C=0.661
1000GenomesEuropeSub1006T=0.632C=0.368
1000GenomesGlobalStudy-wide5008T=0.463C=0.537
1000GenomesSouth AsianSub978T=0.560C=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.604C=0.396
The Exome Aggregation ConsortiumAmericanSub19910T=0.416C=0.583
The Exome Aggregation ConsortiumAsianSub23400T=0.478C=0.521
The Exome Aggregation ConsortiumEuropeSub64710T=0.593C=0.406
The Exome Aggregation ConsortiumGlobalStudy-wide108798T=0.535C=0.464
The Exome Aggregation ConsortiumOtherSub778T=0.540C=0.460
The Genome Aggregation DatabaseAfricanSub8676T=0.398C=0.602
The Genome Aggregation DatabaseAmericanSub834T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1614T=0.341C=0.659
The Genome Aggregation DatabaseEuropeSub18406T=0.598C=0.401
The Genome Aggregation DatabaseGlobalStudy-wide29828T=0.523C=0.476
The Genome Aggregation DatabaseOtherSub298T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.507C=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.631C=0.369
PMID Title Author Journal
23844940A candidate gene study for the association of host single nucleotide polymorphisms with liver cirrhosis risk in chinese hepatitis B patients.Peng LGenet Test Mol Biomarkers
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet
19586676Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.Li YJ Hepatol
24019741Association transient receptor potential melastatin channel gene polymorphism with primary open angle glaucoma.Okumus SMol Vis
21489577Genetic variation within the TRPM5 locus associates with prediabetic phenotypes in subjects at increased risk for type 2 diabetes.Ketterer CMetabolism

P-Value

SNP ID p-value Traits Study
rs8862772.42E-06alcohol consumption23555315

eQTL of rs886277 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 rs886277 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 )
chr1124019382402838E067-36929
chr1124028522402969E067-36798
chr1124029892403233E067-36534
chr1124033182403793E067-35974
chr1124038972406753E067-33014
chr1124069892407430E067-32337
chr1124074472407594E067-32173
chr1124076382407855E067-31912
chr1124079232408374E067-31393
chr1124084522409249E067-30518
chr1124093692409536E067-30231
chr1124095602409619E067-30148
chr1124096632409772E067-29995
chr1124098302409924E067-29843
chr1124099442410060E067-29707
chr1124101152410199E067-29568
chr1124102152410360E067-29407
chr1124103992410475E067-29292
chr1124105412411003E067-28764
chr1124110252411329E067-28438
chr1124113662411557E067-28210
chr1124115982411658E067-28109
chr1124029892403233E068-36534
chr1124033182403793E068-35974
chr1124084522409249E068-30518
chr1124093692409536E068-30231
chr1124095602409619E068-30148
chr1124096632409772E068-29995
chr1124098302409924E068-29843
chr1124099442410060E068-29707
chr1124102152410360E068-29407
chr1124105412411003E068-28764
chr1124110252411329E068-28438
chr1124113662411557E068-28210
chr1124115982411658E068-28109
chr1124117892412493E068-27274
chr1124125522412606E068-27161
chr1124126152412699E068-27068
chr1124129232413004E068-26763
chr1124130862413297E068-26470
chr1124133722413428E068-26339
chr1124143792415301E068-24466
chr1124019382402838E069-36929
chr1124028522402969E069-36798
chr1124029892403233E069-36534
chr1124033182403793E069-35974
chr1124038972406753E069-33014
chr1124076382407855E069-31912
chr1124079232408374E069-31393
chr1124084522409249E069-30518
chr1124093692409536E069-30231
chr1124095602409619E069-30148
chr1124096632409772E069-29995
chr1124098302409924E069-29843
chr1124099442410060E069-29707
chr1124101152410199E069-29568
chr1124102152410360E069-29407
chr1124103992410475E069-29292
chr1124105412411003E069-28764
chr1124110252411329E069-28438
chr1124113662411557E069-28210
chr1124115982411658E069-28109
chr1124117892412493E069-27274
chr1124125522412606E069-27161
chr1124076382407855E070-31912
chr1124079232408374E070-31393
chr1124084522409249E070-30518
chr1124098302409924E070-29843
chr1124099442410060E070-29707
chr1124101152410199E070-29568
chr1124239022424221E070-15546
chr1124019382402838E071-36929
chr1124033182403793E071-35974
chr1124069892407430E071-32337
chr1124074472407594E071-32173
chr1124093692409536E071-30231
chr1124095602409619E071-30148
chr1124096632409772E071-29995
chr1124098302409924E071-29843
chr1124099442410060E071-29707
chr1124101152410199E071-29568
chr1124102152410360E071-29407
chr1124103992410475E071-29292
chr1124105412411003E071-28764
chr1124110252411329E071-28438
chr1124113662411557E071-28210
chr1124115982411658E071-28109
chr1124117892412493E071-27274
chr1124125522412606E071-27161
chr1124126152412699E071-27068
chr1124129232413004E071-26763
chr1124195812419894E071-19873
chr1124407852442571E0711018
chr1124890722489166E07149305
chr1124019382402838E072-36929
chr1124028522402969E072-36798
chr1124029892403233E072-36534
chr1124033182403793E072-35974
chr1124038972406753E072-33014
chr1124069892407430E072-32337
chr1124074472407594E072-32173
chr1124076382407855E072-31912
chr1124079232408374E072-31393
chr1124084522409249E072-30518
chr1124093692409536E072-30231
chr1124095602409619E072-30148
chr1124096632409772E072-29995
chr1124098302409924E072-29843
chr1124099442410060E072-29707
chr1124101152410199E072-29568
chr1124102152410360E072-29407
chr1124103992410475E072-29292
chr1124105412411003E072-28764
chr1124110252411329E072-28438
chr1124113662411557E072-28210
chr1124115982411658E072-28109
chr1124117892412493E072-27274
chr1124407852442571E0721018
chr1124019382402838E073-36929
chr1124028522402969E073-36798
chr1124029892403233E073-36534
chr1124033182403793E073-35974
chr1124038972406753E073-33014
chr1124069892407430E073-32337
chr1124074472407594E073-32173
chr1124076382407855E073-31912
chr1124079232408374E073-31393
chr1124084522409249E073-30518
chr1124093692409536E073-30231
chr1124095602409619E073-30148
chr1124096632409772E073-29995
chr1124098302409924E073-29843
chr1124099442410060E073-29707
chr1124101152410199E073-29568
chr1124102152410360E073-29407
chr1124103992410475E073-29292
chr1124105412411003E073-28764
chr1124110252411329E073-28438
chr1124113662411557E073-28210
chr1124115982411658E073-28109
chr1124117892412493E073-27274
chr1124125522412606E073-27161
chr1124126152412699E073-27068
chr1124129232413004E073-26763
chr1124256352425721E073-14046
chr1124257282425814E073-13953
chr1124407852442571E0731018
chr1124028522402969E074-36798
chr1124029892403233E074-36534
chr1124033182403793E074-35974
chr1124038972406753E074-33014
chr1124069892407430E074-32337
chr1124074472407594E074-32173
chr1124076382407855E074-31912
chr1124079232408374E074-31393
chr1124084522409249E074-30518
chr1124093692409536E074-30231
chr1124095602409619E074-30148
chr1124096632409772E074-29995
chr1124098302409924E074-29843
chr1124099442410060E074-29707
chr1124101152410199E074-29568
chr1124102152410360E074-29407
chr1124103992410475E074-29292
chr1124105412411003E074-28764
chr1124110252411329E074-28438
chr1124113662411557E074-28210
chr1124115982411658E074-28109
chr1124117892412493E074-27274
chr1124125522412606E074-27161
chr1124079232408374E081-31393
chr1124299892430203E081-9564
chr1124727812472831E08133014
chr1124732362473297E08133469
chr1124734832473634E08133716
chr1124737242473993E08133957
chr1124734832473634E08233716
chr1124737242473993E08233957










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1123976302398633E067-41134
chr1123986912400485E067-39282
chr1124200092422714E067-17053
chr1123976302398633E068-41134
chr1123986912400485E068-39282
chr1124200092422714E068-17053
chr1123976302398633E069-41134
chr1123986912400485E069-39282
chr1124200092422714E069-17053
chr1123976302398633E070-41134
chr1123986912400485E070-39282
chr1124200092422714E070-17053
chr1123976302398633E071-41134
chr1123986912400485E071-39282
chr1124200092422714E071-17053
chr1123976302398633E072-41134
chr1123986912400485E072-39282
chr1124200092422714E072-17053
chr1123976302398633E073-41134
chr1123986912400485E073-39282
chr1124200092422714E073-17053
chr1124659962467126E07326229
chr1123976302398633E074-41134
chr1123986912400485E074-39282
chr1124200092422714E074-17053
chr1123976302398633E082-41134
chr1123986912400485E082-39282
chr1124200092422714E082-17053