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rs28938175

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28938175(C;T)
Make rs28938175(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position30877640
GeneCOCH, RPS4XP13
is asnp
is mentioned by
dbSNPrs28938175
ebirs28938175
HLIrs28938175
Exacrs28938175
Varsomers28938175
Maprs28938175
PheGenIrs28938175
hapmaprs28938175
1000 genomesrs28938175
hgdprs28938175
ensemblrs28938175
gopubmedrs28938175
geneviewrs28938175
scholarrs28938175
googlers28938175
pharmgkbrs28938175
gwascentralrs28938175
openSNPrs28938175
23andMers28938175
23andMe allrs28938175
SNP Nexus

SNPshotrs28938175
SNPdbers28938175
MSV3drs28938175
GWAS Ctlgrs28938175
Max Magnitude0
deafness
OMIM603196
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9
Variant0004
Relatedalso
ClinVar
Risk rs28938175(T;T)
Alt rs28938175(T;T)
Reference rs28938175(C;C)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene COCH LOC100506071
CLNDBN Deafness, autosomal dominant 9 Non-syndromic genetic deafness
Reversed 0
HGVS NC_000014.8:g.31346846C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006990.5, RCV000211754.1,