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rs137853000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853000(G;T)
Make rs137853000(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position42383168
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs137853000
ebirs137853000
HLIrs137853000
Exacrs137853000
Varsomers137853000
Maprs137853000
PheGenIrs137853000
hapmaprs137853000
1000 genomesrs137853000
hgdprs137853000
ensemblrs137853000
gopubmedrs137853000
geneviewrs137853000
scholarrs137853000
googlers137853000
pharmgkbrs137853000
gwascentralrs137853000
openSNPrs137853000
23andMers137853000
23andMe allrs137853000
SNP Nexus

SNPshotrs137853000
SNPdbers137853000
MSV3drs137853000
GWAS Ctlgrs137853000
GMAF0.0004591
Max Magnitude0
OMIM605511
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853000(A,T;A,T)
Alt rs137853000(A,T;A,T)
Reference rs137853000(G;G)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8 Non-syndromic genetic deafness
Reversed 1
HGVS NC_000021.8:g.43803277C>A; NC_000021.8:g.43803277C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005234.3, RCV000039364.2,