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rs397517376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397517376(-;A)
Make rs397517376(A;A)
ReferenceGRCh38 38.1/141
Chromosome21
Position42384006
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs397517376
dbSNP (classic)rs397517376
ClinGenrs397517376
ebirs397517376
HLIrs397517376
Exacrs397517376
Gnomadrs397517376
Varsomers397517376
LitVarrs397517376
Maprs397517376
PheGenIrs397517376
Biobankrs397517376
1000 genomesrs397517376
hgdprs397517376
ensemblrs397517376
geneviewrs397517376
scholarrs397517376
googlers397517376
pharmgkbrs397517376
gwascentralrs397517376
openSNPrs397517376
23andMers397517376
SNPshotrs397517376
SNPdbers397517376
MSV3drs397517376
GWAS Ctlgrs397517376
Max Magnitude0
ClinVar
Risk rs397517376(A;A)
Alt rs397517376(A;A)
Reference Rs397517376(-;-)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000021.8:g.43804116dupT
CLNSRC ClinVar
CLNACC RCV000039360.2,