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rs797045730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045730(C;C)
Make rs797045730(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23416071
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs797045730
dbSNP (classic)rs797045730
ClinGenrs797045730
ebirs797045730
HLIrs797045730
Exacrs797045730
Gnomadrs797045730
Varsomers797045730
LitVarrs797045730
Maprs797045730
PheGenIrs797045730
Biobankrs797045730
1000 genomesrs797045730
hgdprs797045730
ensemblrs797045730
geneviewrs797045730
scholarrs797045730
googlers797045730
pharmgkbrs797045730
gwascentralrs797045730
openSNPrs797045730
23andMers797045730
SNPshotrs797045730
SNPdbers797045730
MSV3drs797045730
GWAS Ctlgrs797045730
Max Magnitude0
ClinVar
Risk rs797045730(C;C)
Alt rs797045730(C;C)
Reference Rs797045730(T;T)
Significance Probable-Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy
Reversed 1
HGVS NC_000014.8:g.23885280A>G
CLNSRC
CLNACC RCV000193528.1,