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rs28939084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939084(C;T)
Make rs28939084(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position42375852
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs28939084
ebirs28939084
HLIrs28939084
Exacrs28939084
Varsomers28939084
Maprs28939084
PheGenIrs28939084
hapmaprs28939084
1000 genomesrs28939084
hgdprs28939084
ensemblrs28939084
gopubmedrs28939084
geneviewrs28939084
scholarrs28939084
googlers28939084
pharmgkbrs28939084
gwascentralrs28939084
openSNPrs28939084
23andMers28939084
23andMe allrs28939084
SNP Nexus

SNPshotrs28939084
SNPdbers28939084
MSV3drs28939084
GWAS Ctlgrs28939084
Max Magnitude0
deafness
OMIM605511
DescDEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10
Variant0004
Relatedalso
ClinVar
Risk rs28939084(T;T)
Alt rs28939084(T;T)
Reference rs28939084(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8
Reversed 1
HGVS NC_000021.8:g.43795961G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005233.4,