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rs928302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs928302(C;T)
Make rs928302(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position42389975
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs928302
ebirs928302
HLIrs928302
Exacrs928302
Varsomers928302
Maprs928302
PheGenIrs928302
hapmaprs928302
1000 genomesrs928302
hgdprs928302
ensemblrs928302
gopubmedrs928302
geneviewrs928302
scholarrs928302
googlers928302
pharmgkbrs928302
gwascentralrs928302
openSNPrs928302
23andMers928302
23andMe allrs928302
SNP Nexus

SNPshotrs928302
SNPdbers928302
MSV3drs928302
GWAS Ctlgrs928302
GMAF0.1175
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene TMPRSS3
allele T
frequency 0.067
sift TOLERATED
HuRef 1103643127594
Disease Association Defects in TMPRSS3 are a cause of congenital autosomal recessive neurosensory deafness 10 (DFNB10) (MIM:605316).




ClinVar
Risk rs928302(T;T)
Alt rs928302(T;T)
Reference rs928302(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TMPRSS3
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.43810084C>T
CLNSRC ClinVar
CLNACC RCV000039342.2,



[PMID 18817904OA-icon.png] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.


[PMID 11137999] Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.


GET Evidence
TMPRSS3-V53I
aa_change Val53Ile
aa_change_short V53I
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0813348
summary