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rs879255253

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879255253(A;A)
Make rs879255253(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10542874
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs879255253
ebirs879255253
HLIrs879255253
Exacrs879255253
Varsomers879255253
Maprs879255253
PheGenIrs879255253
hapmaprs879255253
1000 genomesrs879255253
hgdprs879255253
ensemblrs879255253
gopubmedrs879255253
geneviewrs879255253
scholarrs879255253
googlers879255253
pharmgkbrs879255253
gwascentralrs879255253
openSNPrs879255253
23andMers879255253
23andMe allrs879255253
SNP Nexus

SNPshotrs879255253
SNPdbers879255253
MSV3drs879255253
GWAS Ctlgrs879255253
Max Magnitude0
ClinVar
Risk rs879255253(A;A)
Alt rs879255253(A;A)
Reference rs879255253(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.10446191C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162318.3,