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rs727504304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504304(C;T)
Make rs727504304(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position42376543
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs727504304
dbSNP (classic)rs727504304
ClinGenrs727504304
ebirs727504304
HLIrs727504304
Exacrs727504304
Gnomadrs727504304
Varsomers727504304
LitVarrs727504304
Maprs727504304
PheGenIrs727504304
Biobankrs727504304
1000 genomesrs727504304
hgdprs727504304
ensemblrs727504304
geneviewrs727504304
scholarrs727504304
googlers727504304
pharmgkbrs727504304
gwascentralrs727504304
openSNPrs727504304
23andMers727504304
SNPshotrs727504304
SNPdbers727504304
MSV3drs727504304
GWAS Ctlgrs727504304
Max Magnitude0
ClinVar
Risk rs727504304(T;T)
Alt rs727504304(T;T)
Reference Rs727504304(C;C)
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.43796652G>A
CLNSRC
CLNACC RCV000154351.1,