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rs587779391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779391(C;C)
Make rs587779391(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23416134
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs587779391
dbSNP (classic)rs587779391
ClinGenrs587779391
ebirs587779391
HLIrs587779391
Exacrs587779391
Gnomadrs587779391
Varsomers587779391
LitVarrs587779391
Maprs587779391
PheGenIrs587779391
Biobankrs587779391
1000 genomesrs587779391
hgdprs587779391
ensemblrs587779391
geneviewrs587779391
scholarrs587779391
googlers587779391
pharmgkbrs587779391
gwascentralrs587779391
openSNPrs587779391
23andMers587779391
SNPshotrs587779391
SNPdbers587779391
MSV3drs587779391
GWAS Ctlgrs587779391
Max Magnitude0
ClinVar
Risk rs587779391(A;A) rs587779391(C;C) rs587779391(T;T)
Alt rs587779391(A;A) rs587779391(C;C) rs587779391(T;T)
Reference Rs587779391(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myopathy, distal, 1
Reversed 1
HGVS NC_000014.8:g.23885343C>G
CLNSRC
CLNACC RCV000132751.2,