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rs28940306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940306(C;T)
Make rs28940306(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position50271424
GeneMYH14
is asnp
is mentioned by
dbSNPrs28940306
ebirs28940306
HLIrs28940306
Exacrs28940306
Varsomers28940306
Maprs28940306
PheGenIrs28940306
hapmaprs28940306
1000 genomesrs28940306
hgdprs28940306
ensemblrs28940306
gopubmedrs28940306
geneviewrs28940306
scholarrs28940306
googlers28940306
pharmgkbrs28940306
gwascentralrs28940306
openSNPrs28940306
23andMers28940306
23andMe allrs28940306
SNP Nexus

SNPshotrs28940306
SNPdbers28940306
MSV3drs28940306
GWAS Ctlgrs28940306
Max Magnitude0
deafness
OMIM608568
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4
Variant0002
Relatedalso
ClinVar
Risk rs28940306(T;T)
Alt rs28940306(T;T)
Reference rs28940306(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4
Reversed 0
HGVS NC_000019.9:g.50774681C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002281.3,