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rs201632198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201632198(A;A)
Make rs201632198(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position42388524
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs201632198
dbSNP (classic)rs201632198
ClinGenrs201632198
ebirs201632198
HLIrs201632198
Exacrs201632198
Gnomadrs201632198
Varsomers201632198
LitVarrs201632198
Maprs201632198
PheGenIrs201632198
Biobankrs201632198
1000 genomesrs201632198
hgdprs201632198
ensemblrs201632198
geneviewrs201632198
scholarrs201632198
googlers201632198
pharmgkbrs201632198
gwascentralrs201632198
openSNPrs201632198
23andMers201632198
SNPshotrs201632198
SNPdbers201632198
MSV3drs201632198
GWAS Ctlgrs201632198
Max Magnitude0
ClinVar
Risk rs201632198(A;A)
Alt rs201632198(A;A)
Reference Rs201632198(G;G)
Significance Pathogenic
Disease Deafness Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided
Reversed 0
HGVS NC_000021.8:g.43808633G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000039351.4, RCV000211860.1, RCV000262015.1, RCV000332878.1,