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rs119103279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103279(A;A)
Make rs119103279(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position50210385
GeneMYH14
is asnp
is mentioned by
dbSNPrs119103279
ebirs119103279
HLIrs119103279
Exacrs119103279
Varsomers119103279
Maprs119103279
PheGenIrs119103279
hapmaprs119103279
1000 genomesrs119103279
hgdprs119103279
ensemblrs119103279
gopubmedrs119103279
geneviewrs119103279
scholarrs119103279
googlers119103279
pharmgkbrs119103279
gwascentralrs119103279
openSNPrs119103279
23andMers119103279
23andMe allrs119103279
SNP Nexus

SNPshotrs119103279
SNPdbers119103279
MSV3drs119103279
GWAS Ctlgrs119103279
Max Magnitude0
OMIM608568
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119103279(A;A)
Alt rs119103279(A;A)
Reference rs119103279(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4
Reversed 0
HGVS NC_000019.9:g.50713642C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002280.3,