Have questions? Visit https://www.reddit.com/r/SNPedia

rs147708782

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147708782(C;T)
Make rs147708782(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position10543746
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs147708782
ebirs147708782
HLIrs147708782
Exacrs147708782
Varsomers147708782
Maprs147708782
PheGenIrs147708782
hapmaprs147708782
1000 genomesrs147708782
hgdprs147708782
ensemblrs147708782
gopubmedrs147708782
geneviewrs147708782
scholarrs147708782
googlers147708782
pharmgkbrs147708782
gwascentralrs147708782
openSNPrs147708782
23andMers147708782
23andMe allrs147708782
SNP Nexus

SNPshotrs147708782
SNPdbers147708782
MSV3drs147708782
GWAS Ctlgrs147708782
Max Magnitude0
ClinVar
Risk rs147708782(T;T)
Alt rs147708782(T;T)
Reference rs147708782(C;C)
Significance Pathogenic
Disease Inclusion body myopathy 3
Variation info
Gene MYH2 MYHAS
CLNDBN Inclusion body myopathy 3
Reversed 0
HGVS NC_000017.10:g.10447063C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162323.3,