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rs28940307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940307(A;A)
Make rs28940307(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position50259210
GeneMYH14
is asnp
is mentioned by
dbSNPrs28940307
ebirs28940307
HLIrs28940307
Exacrs28940307
Varsomers28940307
Maprs28940307
PheGenIrs28940307
hapmaprs28940307
1000 genomesrs28940307
hgdprs28940307
ensemblrs28940307
gopubmedrs28940307
geneviewrs28940307
scholarrs28940307
googlers28940307
pharmgkbrs28940307
gwascentralrs28940307
openSNPrs28940307
23andMers28940307
23andMe allrs28940307
SNP Nexus

SNPshotrs28940307
SNPdbers28940307
MSV3drs28940307
GWAS Ctlgrs28940307
Max Magnitude0
deafness
OMIM608568
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4
Variant0003
Relatedalso


ClinVar
Risk rs28940307(A;A)
Alt rs28940307(A;A)
Reference rs28940307(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4
Reversed 0
HGVS NC_000019.9:g.50762467C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002282.3,