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rs878853126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs878853126(-;AAT)
Make rs878853126(AAT;AAT)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10639075
GeneMYH3
is asnp
is mentioned by
dbSNPrs878853126
dbSNP (classic)rs878853126
ClinGenrs878853126
ebirs878853126
HLIrs878853126
Exacrs878853126
Gnomadrs878853126
Varsomers878853126
LitVarrs878853126
Maprs878853126
PheGenIrs878853126
Biobankrs878853126
1000 genomesrs878853126
hgdprs878853126
ensemblrs878853126
geneviewrs878853126
scholarrs878853126
googlers878853126
pharmgkbrs878853126
gwascentralrs878853126
openSNPrs878853126
23andMers878853126
SNPshotrs878853126
SNPdbers878853126
MSV3drs878853126
GWAS Ctlgrs878853126
Max Magnitude0
ClinVar
Risk rs878853126(AAT;AAT)
Alt rs878853126(AAT;AAT)
Reference Rs878853126(-;-)
Significance Pathogenic
Disease Distal arthrogryposis type 8
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 8
Reversed 1
HGVS NC_000017.10:g.10542393_10542395dupATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000224820.2,