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rs267607547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607547(C;C)
Make rs267607547(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156137664
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607547
dbSNP (classic)rs267607547
ClinGenrs267607547
ebirs267607547
HLIrs267607547
Exacrs267607547
Gnomadrs267607547
Varsomers267607547
LitVarrs267607547
Maprs267607547
PheGenIrs267607547
Biobankrs267607547
1000 genomesrs267607547
hgdprs267607547
ensemblrs267607547
geneviewrs267607547
scholarrs267607547
googlers267607547
pharmgkbrs267607547
gwascentralrs267607547
openSNPrs267607547
23andMers267607547
SNPshotrs267607547
SNPdbers267607547
MSV3drs267607547
GWAS Ctlgrs267607547
Max Magnitude0
ClinVar
Risk rs267607547(C;C)
Alt rs267607547(C;C)
Reference Rs267607547(T;T)
Significance Pathogenic
Disease not provided Hutchinson-Gilford syndrome
Variation info
Gene LMNA
CLNDBN not provided Hutchinson-Gilford syndrome
Reversed 0
HGVS NC_000001.10:g.156107455T>C
CLNSRC
CLNACC RCV000057340.1, RCV000192012.1,