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rs797044597

From SNPedia

Merged intors587779396
Orientationminus
Stabilizedminus
Geno Mag Summary
(TGC;TGC) 0 common in clinvar
Make rs797044597(-;-)
Make rs797044597(-;CTG)
Make rs797044597(CTG;CTG)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23415175
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs797044597
dbSNP (classic)rs797044597
ClinGenrs797044597
ebirs797044597
HLIrs797044597
Exacrs797044597
Gnomadrs797044597
Varsomers797044597
LitVarrs797044597
Maprs797044597
PheGenIrs797044597
Biobankrs797044597
1000 genomesrs797044597
hgdprs797044597
ensemblrs797044597
geneviewrs797044597
scholarrs797044597
googlers797044597
pharmgkbrs797044597
gwascentralrs797044597
openSNPrs797044597
23andMers797044597
SNPshotrs797044597
SNPdbers797044597
MSV3drs797044597
GWAS Ctlgrs797044597
StatusMerged into rs587779396
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs797044597(TGC;TGC)
Significance Pathogenic
Disease Dilated cardiomyopathy 1S Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Dilated cardiomyopathy 1S Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23884383_23884385delGCA
CLNSRC
CLNACC RCV000132758.1, RCV000192203.1,