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rs121913623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913623(A;A)
Make rs121913623(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10648592
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913623
ebirs121913623
HLIrs121913623
Exacrs121913623
Varsomers121913623
Maprs121913623
PheGenIrs121913623
hapmaprs121913623
1000 genomesrs121913623
hgdprs121913623
ensemblrs121913623
gopubmedrs121913623
geneviewrs121913623
scholarrs121913623
googlers121913623
pharmgkbrs121913623
gwascentralrs121913623
openSNPrs121913623
23andMers121913623
23andMe allrs121913623
SNP Nexus

SNPshotrs121913623
SNPdbers121913623
MSV3drs121913623
GWAS Ctlgrs121913623
Max Magnitude0
OMIM160720
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913623(A;A)
Alt rs121913623(A;A)
Reference rs121913623(G;G)
Significance Pathogenic
Disease Distal arthrogryposis type 2B
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 2B
Reversed 1
HGVS NC_000017.10:g.10551909C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015208.26,