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rs121913618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913618(C;T)
Make rs121913618(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position10641318
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913618
ebirs121913618
HLIrs121913618
Exacrs121913618
Varsomers121913618
Maprs121913618
PheGenIrs121913618
hapmaprs121913618
1000 genomesrs121913618
hgdprs121913618
ensemblrs121913618
gopubmedrs121913618
geneviewrs121913618
scholarrs121913618
googlers121913618
pharmgkbrs121913618
gwascentralrs121913618
openSNPrs121913618
23andMers121913618
23andMe allrs121913618
SNP Nexus

SNPshotrs121913618
SNPdbers121913618
MSV3drs121913618
GWAS Ctlgrs121913618
Max Magnitude0
OMIM160720
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913618(T;T)
Alt rs121913618(T;T)
Reference rs121913618(C;C)
Significance Pathogenic
Disease Freeman-Sheldon syndrome
Variation info
Gene MYH3
CLNDBN Freeman-Sheldon syndrome
Reversed 1
HGVS NC_000017.10:g.10544635G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015201.22,