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rs119103281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103281(C;T)
Make rs119103281(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position50210724
GeneMYH14
is asnp
is mentioned by
dbSNPrs119103281
ebirs119103281
HLIrs119103281
Exacrs119103281
Varsomers119103281
Maprs119103281
PheGenIrs119103281
hapmaprs119103281
1000 genomesrs119103281
hgdprs119103281
ensemblrs119103281
gopubmedrs119103281
geneviewrs119103281
scholarrs119103281
googlers119103281
pharmgkbrs119103281
gwascentralrs119103281
openSNPrs119103281
23andMers119103281
23andMe allrs119103281
SNP Nexus

SNPshotrs119103281
SNPdbers119103281
MSV3drs119103281
GWAS Ctlgrs119103281
Max Magnitude0
OMIM608568
Desc
Variant0005
Relatedalso
ClinVar
Risk rs119103281(T;T)
Alt rs119103281(T;T)
Reference rs119103281(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4
Reversed 0
HGVS NC_000019.9:g.50713981C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002284.3,