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rs121913619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913619(C;T)
Make rs121913619(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position10650374
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913619
ebirs121913619
HLIrs121913619
Exacrs121913619
Varsomers121913619
Maprs121913619
PheGenIrs121913619
hapmaprs121913619
1000 genomesrs121913619
hgdprs121913619
ensemblrs121913619
gopubmedrs121913619
geneviewrs121913619
scholarrs121913619
googlers121913619
pharmgkbrs121913619
gwascentralrs121913619
openSNPrs121913619
23andMers121913619
23andMe allrs121913619
SNP Nexus

SNPshotrs121913619
SNPdbers121913619
MSV3drs121913619
GWAS Ctlgrs121913619
Max Magnitude0
OMIM160720
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913619(T;T)
Alt rs121913619(T;T)
Reference rs121913619(C;C)
Significance Pathogenic
Disease Freeman-Sheldon syndrome Distal arthrogryposis type 2B
Variation info
Gene MYH3
CLNDBN Freeman-Sheldon syndrome Distal arthrogryposis type 2B
Reversed 1
HGVS NC_000017.10:g.10553691G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015202.26, RCV000015203.26,