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rs113993956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993956(G;T)
Make rs113993956(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position50268255
GeneMYH14
is asnp
is mentioned by
dbSNPrs113993956
ebirs113993956
HLIrs113993956
Exacrs113993956
Varsomers113993956
Maprs113993956
PheGenIrs113993956
hapmaprs113993956
1000 genomesrs113993956
hgdprs113993956
ensemblrs113993956
gopubmedrs113993956
geneviewrs113993956
scholarrs113993956
googlers113993956
pharmgkbrs113993956
gwascentralrs113993956
openSNPrs113993956
23andMers113993956
23andMe allrs113993956
SNP Nexus

SNPshotrs113993956
SNPdbers113993956
MSV3drs113993956
GWAS Ctlgrs113993956
Max Magnitude0
ClinVar
Risk rs113993956(A,T;A,T)
Alt rs113993956(A,T;A,T)
Reference rs113993956(G;G)
Significance Pathogenic
Disease Peripheral neuropathy
Variation info
Gene MYH14
CLNDBN Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Reversed 0
HGVS NC_000019.9:g.50771512G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023718.3,