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rs121913620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913620(A;A)
Make rs121913620(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position10640204
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913620
ebirs121913620
HLIrs121913620
Exacrs121913620
Varsomers121913620
Maprs121913620
PheGenIrs121913620
hapmaprs121913620
1000 genomesrs121913620
hgdprs121913620
ensemblrs121913620
gopubmedrs121913620
geneviewrs121913620
scholarrs121913620
googlers121913620
pharmgkbrs121913620
gwascentralrs121913620
openSNPrs121913620
23andMers121913620
23andMe allrs121913620
SNP Nexus

SNPshotrs121913620
SNPdbers121913620
MSV3drs121913620
GWAS Ctlgrs121913620
Max Magnitude0
OMIM160720
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913620(A;A)
Alt rs121913620(A;A)
Reference rs121913620(T;T)
Significance Pathogenic
Disease Freeman-Sheldon syndrome
Variation info
Gene MYH3
CLNDBN Freeman-Sheldon syndrome
Reversed 1
HGVS NC_000017.10:g.10543521A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015204.22,