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rs387906915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906915(A;G)
Make rs387906915(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position42388943
GeneTMPRSS3
is asnp
is mentioned by
dbSNPrs387906915
dbSNP (classic)rs387906915
ClinGenrs387906915
ebirs387906915
HLIrs387906915
Exacrs387906915
Gnomadrs387906915
Varsomers387906915
LitVarrs387906915
Maprs387906915
PheGenIrs387906915
Biobankrs387906915
1000 genomesrs387906915
hgdprs387906915
ensemblrs387906915
geneviewrs387906915
scholarrs387906915
googlers387906915
pharmgkbrs387906915
gwascentralrs387906915
openSNPrs387906915
23andMers387906915
SNPshotrs387906915
SNPdbers387906915
MSV3drs387906915
GWAS Ctlgrs387906915
Max Magnitude0
ClinVar
Risk rs387906915(G;G)
Alt rs387906915(G;G)
Reference Rs387906915(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene TMPRSS3
CLNDBN Deafness, autosomal recessive 8
Reversed 1
HGVS NC_000021.8:g.43809052T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023450.4,