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rs121913617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913617(A;A)
Make rs121913617(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10641317
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913617
ebirs121913617
HLIrs121913617
Exacrs121913617
Varsomers121913617
Maprs121913617
PheGenIrs121913617
hapmaprs121913617
1000 genomesrs121913617
hgdprs121913617
ensemblrs121913617
gopubmedrs121913617
geneviewrs121913617
scholarrs121913617
googlers121913617
pharmgkbrs121913617
gwascentralrs121913617
openSNPrs121913617
23andMers121913617
23andMe allrs121913617
SNP Nexus

SNPshotrs121913617
SNPdbers121913617
MSV3drs121913617
GWAS Ctlgrs121913617
Max Magnitude0
OMIM160720
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913617(A;A)
Alt rs121913617(A;A)
Reference rs121913617(G;G)
Significance Pathogenic
Disease Freeman-Sheldon syndrome
Variation info
Gene MYH3
CLNDBN Freeman-Sheldon syndrome
Reversed 1
HGVS NC_000017.10:g.10544634C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015200.26,