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rs797044596

From SNPedia

Merged intors121913648
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs797044596(-;-)
Make rs797044596(-;AGA)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23416105
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs797044596
dbSNP (classic)rs797044596
ClinGenrs797044596
ebirs797044596
HLIrs797044596
Exacrs797044596
Gnomadrs797044596
Varsomers797044596
LitVarrs797044596
Maprs797044596
PheGenIrs797044596
Biobankrs797044596
1000 genomesrs797044596
hgdprs797044596
ensemblrs797044596
geneviewrs797044596
scholarrs797044596
googlers797044596
pharmgkbrs797044596
gwascentralrs797044596
openSNPrs797044596
23andMers797044596
SNPshotrs797044596
SNPdbers797044596
MSV3drs797044596
GWAS Ctlgrs797044596
StatusMerged into rs121913648
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs797044596(AGA;AGA)
Significance Pathogenic
Disease Laing distal myopathy Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Laing distal myopathy Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23885314_23885316delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015173.26, RCV000192202.1,