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rs797045727

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045727(G;G)
Make rs797045727(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position10642903
GeneMYH3
is asnp
is mentioned by
dbSNPrs797045727
ebirs797045727
HLIrs797045727
Exacrs797045727
Varsomers797045727
Maprs797045727
PheGenIrs797045727
hapmaprs797045727
1000 genomesrs797045727
hgdprs797045727
ensemblrs797045727
gopubmedrs797045727
geneviewrs797045727
scholarrs797045727
googlers797045727
pharmgkbrs797045727
gwascentralrs797045727
openSNPrs797045727
23andMers797045727
23andMe allrs797045727
SNP Nexus

SNPshotrs797045727
SNPdbers797045727
MSV3drs797045727
GWAS Ctlgrs797045727
Max Magnitude0
ClinVar
Risk rs797045727(G;G)
Alt rs797045727(G;G)
Reference rs797045727(T;T)
Significance Probable-Pathogenic
Disease Freeman-Sheldon syndrome
Variation info
Gene MYH3
CLNDBN Freeman-Sheldon syndrome
Reversed 1
HGVS NC_000017.10:g.10546220A>C
CLNSRC
CLNACC RCV000193979.1,