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rs397517368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517368(A;A)
Make rs397517368(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position42380140
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs397517368
dbSNP (classic)rs397517368
ClinGenrs397517368
ebirs397517368
HLIrs397517368
Exacrs397517368
Gnomadrs397517368
Varsomers397517368
LitVarrs397517368
Maprs397517368
PheGenIrs397517368
Biobankrs397517368
1000 genomesrs397517368
hgdprs397517368
ensemblrs397517368
geneviewrs397517368
scholarrs397517368
googlers397517368
pharmgkbrs397517368
gwascentralrs397517368
openSNPrs397517368
23andMers397517368
SNPshotrs397517368
SNPdbers397517368
MSV3drs397517368
GWAS Ctlgrs397517368
Max Magnitude0
ClinVar
Risk rs397517368(A;A)
Alt rs397517368(A;A)
Reference Rs397517368(G;G)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000021.8:g.43800249C>T
CLNSRC ClinVar
CLNACC RCV000039330.2,