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rs374793617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374793617(C;T)
Make rs374793617(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position42388532
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs374793617
dbSNP (classic)rs374793617
ClinGenrs374793617
ebirs374793617
HLIrs374793617
Exacrs374793617
Gnomadrs374793617
Varsomers374793617
LitVarrs374793617
Maprs374793617
PheGenIrs374793617
Biobankrs374793617
1000 genomesrs374793617
hgdprs374793617
ensemblrs374793617
geneviewrs374793617
scholarrs374793617
googlers374793617
pharmgkbrs374793617
gwascentralrs374793617
openSNPrs374793617
23andMers374793617
SNPshotrs374793617
SNPdbers374793617
MSV3drs374793617
GWAS Ctlgrs374793617
Max Magnitude0
ClinVar
Risk rs374793617(T;T)
Alt rs374793617(T;T)
Reference Rs374793617(C;C)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000021.8:g.43808641C>T
CLNSRC ClinVar
CLNACC RCV000039350.2,