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rs372526764

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs372526764(C;T)
Make rs372526764(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position42383088
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs372526764
dbSNP (classic)rs372526764
ClinGenrs372526764
ebirs372526764
HLIrs372526764
Exacrs372526764
Gnomadrs372526764
Varsomers372526764
LitVarrs372526764
Maprs372526764
PheGenIrs372526764
Biobankrs372526764
1000 genomesrs372526764
hgdprs372526764
ensemblrs372526764
geneviewrs372526764
scholarrs372526764
googlers372526764
pharmgkbrs372526764
gwascentralrs372526764
openSNPrs372526764
23andMers372526764
SNPshotrs372526764
SNPdbers372526764
MSV3drs372526764
GWAS Ctlgrs372526764
Max Magnitude0
ClinVar
Risk rs372526764(T;T)
Alt rs372526764(T;T)
Reference Rs372526764(C;C)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness Deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness Deafness, autosomal recessive 8
Reversed 0
HGVS NC_000021.8:g.43803197C>T
CLNSRC
CLNACC RCV000155297.1, RCV000487440.1,