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rs267607599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607599(A;G)
Make rs267607599(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position156136422
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607599
dbSNP (classic)rs267607599
ClinGenrs267607599
ebirs267607599
HLIrs267607599
Exacrs267607599
Gnomadrs267607599
Varsomers267607599
LitVarrs267607599
Maprs267607599
PheGenIrs267607599
Biobankrs267607599
1000 genomesrs267607599
hgdprs267607599
ensemblrs267607599
geneviewrs267607599
scholarrs267607599
googlers267607599
pharmgkbrs267607599
gwascentralrs267607599
openSNPrs267607599
23andMers267607599
SNPshotrs267607599
SNPdbers267607599
MSV3drs267607599
GWAS Ctlgrs267607599
Max Magnitude0
ClinVar
Risk rs267607599(G;G)
Alt rs267607599(G;G)
Reference Rs267607599(A;A)
Significance Pathogenic
Disease not provided Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156106213A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000057277.1, RCV000465598.1,