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rs143733205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143733205(G;T)
Make rs143733205(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position42389013
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs143733205
dbSNP (classic)rs143733205
ClinGenrs143733205
ebirs143733205
HLIrs143733205
Exacrs143733205
Gnomadrs143733205
Varsomers143733205
LitVarrs143733205
Maprs143733205
PheGenIrs143733205
Biobankrs143733205
1000 genomesrs143733205
hgdprs143733205
ensemblrs143733205
geneviewrs143733205
scholarrs143733205
googlers143733205
pharmgkbrs143733205
gwascentralrs143733205
openSNPrs143733205
23andMers143733205
SNPshotrs143733205
SNPdbers143733205
MSV3drs143733205
GWAS Ctlgrs143733205
Max Magnitude0
ClinVar
Risk rs143733205(A;A) rs143733205(T;T)
Alt rs143733205(A;A) rs143733205(T;T)
Reference Rs143733205(G;G)
Significance Probable-Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 0
HGVS NC_000021.8:g.43809122G>A
CLNSRC
CLNACC RCV000221480.1,