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rs267607543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607543(C;C)
Make rs267607543(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156137033
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607543
dbSNP (classic)rs267607543
ClinGenrs267607543
ebirs267607543
HLIrs267607543
Exacrs267607543
Gnomadrs267607543
Varsomers267607543
LitVarrs267607543
Maprs267607543
PheGenIrs267607543
Biobankrs267607543
1000 genomesrs267607543
hgdprs267607543
ensemblrs267607543
geneviewrs267607543
scholarrs267607543
googlers267607543
pharmgkbrs267607543
gwascentralrs267607543
openSNPrs267607543
23andMers267607543
SNPshotrs267607543
SNPdbers267607543
MSV3drs267607543
GWAS Ctlgrs267607543
Max Magnitude0
ClinVar
Risk rs267607543(A;A) rs267607543(C;C)
Alt rs267607543(A;A) rs267607543(C;C)
Reference Rs267607543(G;G)
Significance Pathogenic
Disease not provided Familial partial lipodystrophy 2
Variation info
Gene LMNA
CLNDBN not provided Familial partial lipodystrophy 2
Reversed 0
HGVS NC_000001.10:g.156106824G>A; NC_000001.10:g.156106824G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000057306.1, RCV000015610.27, RCV000057307.1,