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rs727503493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503493(-;-)
Make rs727503493(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position42389043
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs727503493
dbSNP (classic)rs727503493
ClinGenrs727503493
ebirs727503493
HLIrs727503493
Exacrs727503493
Gnomadrs727503493
Varsomers727503493
LitVarrs727503493
Maprs727503493
PheGenIrs727503493
Biobankrs727503493
1000 genomesrs727503493
hgdprs727503493
ensemblrs727503493
geneviewrs727503493
scholarrs727503493
googlers727503493
pharmgkbrs727503493
gwascentralrs727503493
openSNPrs727503493
23andMers727503493
SNPshotrs727503493
SNPdbers727503493
MSV3drs727503493
GWAS Ctlgrs727503493
Max Magnitude0
ClinVar
Risk rs727503493(-;-)
Alt rs727503493(-;-)
Reference Rs727503493(C;C)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss not provided
Variation info
Gene TMPRSS3
CLNDBN Nonsyndromic hearing loss and deafness Nonsyndromic Hearing Loss, Recessive not provided
Reversed 1
HGVS NC_000021.8:g.43809152delG
CLNSRC
CLNACC RCV000152065.2, RCV000371920.1, RCV000412773.1,