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rs147231991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147231991(G;T)
Make rs147231991(T;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position42388436
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs147231991
ebirs147231991
HLIrs147231991
Exacrs147231991
Varsomers147231991
Maprs147231991
PheGenIrs147231991
hapmaprs147231991
1000 genomesrs147231991
hgdprs147231991
ensemblrs147231991
gopubmedrs147231991
geneviewrs147231991
scholarrs147231991
googlers147231991
pharmgkbrs147231991
gwascentralrs147231991
openSNPrs147231991
23andMers147231991
23andMe allrs147231991
SNP Nexus

SNPshotrs147231991
SNPdbers147231991
MSV3drs147231991
GWAS Ctlgrs147231991
Max Magnitude0
ClinVar
Risk rs147231991(T;T)
Alt rs147231991(T;T)
Reference rs147231991(G;G)
Significance Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene TMPRSS3
CLNDBN Non-syndromic genetic deafness
Reversed 0
HGVS NC_000021.8:g.43808545G>T
CLNSRC ClinVar
CLNACC RCV000039356.3,