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rs137852999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852999(C;C)
Make rs137852999(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position42383062
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs137852999
ebirs137852999
HLIrs137852999
Exacrs137852999
Varsomers137852999
Maprs137852999
PheGenIrs137852999
hapmaprs137852999
1000 genomesrs137852999
hgdprs137852999
ensemblrs137852999
gopubmedrs137852999
geneviewrs137852999
scholarrs137852999
googlers137852999
pharmgkbrs137852999
gwascentralrs137852999
openSNPrs137852999
23andMers137852999
23andMe allrs137852999
SNP Nexus

SNPshotrs137852999
SNPdbers137852999
MSV3drs137852999
GWAS Ctlgrs137852999
Max Magnitude0
OMIM605511
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852999(C;C)
Alt rs137852999(C;C)
Reference rs137852999(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8
Reversed 1
HGVS NC_000021.8:g.43803171C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005231.3,