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rs267607592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607592(A;A)
Make rs267607592(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position156137233
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607592
dbSNP (classic)rs267607592
ClinGenrs267607592
ebirs267607592
HLIrs267607592
Exacrs267607592
Gnomadrs267607592
Varsomers267607592
LitVarrs267607592
Maprs267607592
PheGenIrs267607592
Biobankrs267607592
1000 genomesrs267607592
hgdprs267607592
ensemblrs267607592
geneviewrs267607592
scholarrs267607592
googlers267607592
pharmgkbrs267607592
gwascentralrs267607592
openSNPrs267607592
23andMers267607592
SNPshotrs267607592
SNPdbers267607592
MSV3drs267607592
GWAS Ctlgrs267607592
Max Magnitude0
ClinVar
Risk rs267607592(A;A)
Alt rs267607592(A;A)
Reference Rs267607592(G;G)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene LMNA
CLNDBN not provided Limb-girdle muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.156107024G>A
CLNSRC
CLNACC RCV000057335.1, RCV000150954.1,