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rs797044600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044600(C;C)
Make rs797044600(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23416194
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs797044600
dbSNP (classic)rs797044600
ClinGenrs797044600
ebirs797044600
HLIrs797044600
Exacrs797044600
Gnomadrs797044600
Varsomers797044600
LitVarrs797044600
Maprs797044600
PheGenIrs797044600
Biobankrs797044600
1000 genomesrs797044600
hgdprs797044600
ensemblrs797044600
geneviewrs797044600
scholarrs797044600
googlers797044600
pharmgkbrs797044600
gwascentralrs797044600
openSNPrs797044600
23andMers797044600
SNPshotrs797044600
SNPdbers797044600
MSV3drs797044600
GWAS Ctlgrs797044600
Max Magnitude0
ClinVar
Risk rs797044600(C;C)
Alt rs797044600(C;C)
Reference Rs797044600(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23885403C>G
CLNSRC
CLNACC RCV000192207.1,