Have questions? Visit https://www.reddit.com/r/SNPedia

rs56264519

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56264519(C;T)
Make rs56264519(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position42375787
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs56264519
ebirs56264519
HLIrs56264519
Exacrs56264519
Varsomers56264519
Maprs56264519
PheGenIrs56264519
hapmaprs56264519
1000 genomesrs56264519
hgdprs56264519
ensemblrs56264519
gopubmedrs56264519
geneviewrs56264519
scholarrs56264519
googlers56264519
pharmgkbrs56264519
gwascentralrs56264519
openSNPrs56264519
23andMers56264519
23andMe allrs56264519
SNP Nexus

SNPshotrs56264519
SNPdbers56264519
MSV3drs56264519
GWAS Ctlgrs56264519
Max Magnitude0
ClinVar
Risk rs56264519(T;T)
Alt rs56264519(T;T)
Reference rs56264519(C;C)
Significance Probable-Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000021.8:g.43795896C>T
CLNSRC
CLNACC RCV000039339.5, RCV000211742.1,