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rs879255254

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255254(-;-)
Make rs879255254(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10533326
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs879255254
ebirs879255254
HLIrs879255254
Exacrs879255254
Varsomers879255254
Maprs879255254
PheGenIrs879255254
hapmaprs879255254
1000 genomesrs879255254
hgdprs879255254
ensemblrs879255254
gopubmedrs879255254
geneviewrs879255254
scholarrs879255254
googlers879255254
pharmgkbrs879255254
gwascentralrs879255254
openSNPrs879255254
23andMers879255254
23andMe allrs879255254
SNP Nexus

SNPshotrs879255254
SNPdbers879255254
MSV3drs879255254
GWAS Ctlgrs879255254
Max Magnitude0
ClinVar
Risk rs879255254(;)
Alt rs879255254(;)
Reference rs879255254(G;G)
Significance Pathogenic
Disease Inclusion body myopathy 3
Variation info
Gene MYH2 MYHAS
CLNDBN Inclusion body myopathy 3
Reversed 1
HGVS NC_000017.10:g.10436643delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000162322.2,