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rs121913621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913621(A;A)
Make rs121913621(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position10645725
GeneMYH3
is asnp
is mentioned by
dbSNPrs121913621
ebirs121913621
HLIrs121913621
Exacrs121913621
Varsomers121913621
Maprs121913621
PheGenIrs121913621
hapmaprs121913621
1000 genomesrs121913621
hgdprs121913621
ensemblrs121913621
gopubmedrs121913621
geneviewrs121913621
scholarrs121913621
googlers121913621
pharmgkbrs121913621
gwascentralrs121913621
openSNPrs121913621
23andMers121913621
23andMe allrs121913621
SNP Nexus

SNPshotrs121913621
SNPdbers121913621
MSV3drs121913621
GWAS Ctlgrs121913621
Max Magnitude0
OMIM160720
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913621(A,C;A,C)
Alt rs121913621(A,C;A,C)
Reference rs121913621(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.10549042C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015206.22,