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rs797044599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044599(C;C)
Make rs797044599(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position23417541
GeneMHRT, MIR208B, MYH7
is asnp
is mentioned by
dbSNPrs797044599
dbSNP (classic)rs797044599
ClinGenrs797044599
ebirs797044599
HLIrs797044599
Exacrs797044599
Gnomadrs797044599
Varsomers797044599
LitVarrs797044599
Maprs797044599
PheGenIrs797044599
Biobankrs797044599
1000 genomesrs797044599
hgdprs797044599
ensemblrs797044599
geneviewrs797044599
scholarrs797044599
googlers797044599
pharmgkbrs797044599
gwascentralrs797044599
openSNPrs797044599
23andMers797044599
SNPshotrs797044599
SNPdbers797044599
MSV3drs797044599
GWAS Ctlgrs797044599
Max Magnitude0
ClinVar
Risk rs797044599(C;C)
Alt rs797044599(C;C)
Reference Rs797044599(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT MIR208B
CLNDBN Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23886750C>G
CLNSRC
CLNACC RCV000192206.1,