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rs797045011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045011(C;C)
Make rs797045011(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156135314
GeneLMNA
is asnp
is mentioned by
dbSNPrs797045011
dbSNP (classic)rs797045011
ClinGenrs797045011
ebirs797045011
HLIrs797045011
Exacrs797045011
Gnomadrs797045011
Varsomers797045011
LitVarrs797045011
Maprs797045011
PheGenIrs797045011
Biobankrs797045011
1000 genomesrs797045011
hgdprs797045011
ensemblrs797045011
geneviewrs797045011
scholarrs797045011
googlers797045011
pharmgkbrs797045011
gwascentralrs797045011
openSNPrs797045011
23andMers797045011
SNPshotrs797045011
SNPdbers797045011
MSV3drs797045011
GWAS Ctlgrs797045011
Max Magnitude0
ClinVar
Risk rs797045011(C;C)
Alt rs797045011(C;C)
Reference Rs797045011(T;T)
Significance Pathogenic
Disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Variation info
Gene LMNA
CLNDBN Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Reversed 0
HGVS NC_000001.10:g.156105105T>C
CLNSRC
CLNACC RCV000190509.1,