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rs746770617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs746770617(C;C)
Make rs746770617(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position10535367
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs746770617
dbSNP (classic)rs746770617
ClinGenrs746770617
ebirs746770617
HLIrs746770617
Exacrs746770617
Gnomadrs746770617
Varsomers746770617
LitVarrs746770617
Maprs746770617
PheGenIrs746770617
Biobankrs746770617
1000 genomesrs746770617
hgdprs746770617
ensemblrs746770617
geneviewrs746770617
scholarrs746770617
googlers746770617
pharmgkbrs746770617
gwascentralrs746770617
openSNPrs746770617
23andMers746770617
SNPshotrs746770617
SNPdbers746770617
MSV3drs746770617
GWAS Ctlgrs746770617
Max Magnitude0
ClinVar
Risk rs746770617(C;C)
Alt rs746770617(C;C)
Reference Rs746770617(T;T)
Significance Pathogenic
Disease Inclusion body myopathy 3
Variation info
Gene MYH2 MYHAS
CLNDBN Inclusion body myopathy 3
Reversed 0
HGVS NC_000017.10:g.10438684T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000162320.2,