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rs758395765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs758395765(A;T)
Make rs758395765(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position10533321
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs758395765
dbSNP (classic)rs758395765
ClinGenrs758395765
ebirs758395765
HLIrs758395765
Exacrs758395765
Gnomadrs758395765
Varsomers758395765
LitVarrs758395765
Maprs758395765
PheGenIrs758395765
Biobankrs758395765
1000 genomesrs758395765
hgdprs758395765
ensemblrs758395765
geneviewrs758395765
scholarrs758395765
googlers758395765
pharmgkbrs758395765
gwascentralrs758395765
openSNPrs758395765
23andMers758395765
SNPshotrs758395765
SNPdbers758395765
MSV3drs758395765
GWAS Ctlgrs758395765
Max Magnitude0
ClinVar
Risk rs758395765(T;T)
Alt rs758395765(T;T)
Reference Rs758395765(A;A)
Significance Pathogenic
Disease Inclusion body myopathy 3
Variation info
Gene MYH2 MYHAS
CLNDBN Inclusion body myopathy 3
Reversed 0
HGVS NC_000017.10:g.10436638A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162321.2,