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rs200662973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200662973(A;G)
Make rs200662973(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position10533312
GeneMYHAS, MYH2
is asnp
is mentioned by
dbSNPrs200662973
dbSNP (old)rs200662973
ClinGenrs200662973
ebirs200662973
HLIrs200662973
Exacrs200662973
Gnomadrs200662973
Varsomers200662973
LitVarrs200662973
Maprs200662973
PheGenIrs200662973
Biobankrs200662973
1000 genomesrs200662973
hgdprs200662973
ensemblrs200662973
gopubmedrs200662973
geneviewrs200662973
scholarrs200662973
googlers200662973
pharmgkbrs200662973
gwascentralrs200662973
openSNPrs200662973
23andMers200662973
23andMe allrs200662973
SNPshotrs200662973
SNPdbers200662973
MSV3drs200662973
GWAS Ctlgrs200662973
Max Magnitude0
ClinVar
Risk rs200662973(G;G)
Alt rs200662973(G;G)
Reference Rs200662973(A;A)
Significance Probable-Pathogenic
Disease not specified Inclusion body myopathy 3
Variation info
Gene MYH2 MYHAS
CLNDBN not specified Inclusion body myopathy 3
Reversed 0
HGVS NC_000017.10:g.10436629A>G
CLNSRC
CLNACC RCV000455902.1, RCV000490432.1,