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rs121913622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913622(A;G)
Make rs121913622(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10644376
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913622
ebirs121913622
HLIrs121913622
Exacrs121913622
Varsomers121913622
Maprs121913622
PheGenIrs121913622
hapmaprs121913622
1000 genomesrs121913622
hgdprs121913622
ensemblrs121913622
gopubmedrs121913622
geneviewrs121913622
scholarrs121913622
googlers121913622
pharmgkbrs121913622
gwascentralrs121913622
openSNPrs121913622
23andMers121913622
23andMe allrs121913622
SNP Nexus

SNPshotrs121913622
SNPdbers121913622
MSV3drs121913622
GWAS Ctlgrs121913622
Max Magnitude0
OMIM160720
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913622(G;G)
Alt rs121913622(G;G)
Reference rs121913622(A;A)
Significance Pathogenic
Disease Distal arthrogryposis type 2B
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 2B
Reversed 1
HGVS NC_000017.10:g.10547693T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015207.22,