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rs796051884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796051884(A;C)
Make rs796051884(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position10639068
GeneMYH3
is asnp
is mentioned by
dbSNPrs796051884
dbSNP (classic)rs796051884
ClinGenrs796051884
ebirs796051884
HLIrs796051884
Exacrs796051884
Gnomadrs796051884
Varsomers796051884
LitVarrs796051884
Maprs796051884
PheGenIrs796051884
Biobankrs796051884
1000 genomesrs796051884
hgdprs796051884
ensemblrs796051884
geneviewrs796051884
scholarrs796051884
googlers796051884
pharmgkbrs796051884
gwascentralrs796051884
openSNPrs796051884
23andMers796051884
SNPshotrs796051884
SNPdbers796051884
MSV3drs796051884
GWAS Ctlgrs796051884
Max Magnitude0
ClinVar
Risk rs796051884(C;C)
Alt rs796051884(C;C)
Reference Rs796051884(A;A)
Significance Pathogenic
Disease Distal arthrogryposis type 8
Variation info
Gene MYH3
CLNDBN Distal arthrogryposis type 8
Reversed 1
HGVS NC_000017.10:g.10542385T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000185627.3,