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rs267607640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607640(A;A)
Make rs267607640(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position156137029
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607640
dbSNP (classic)rs267607640
ClinGenrs267607640
ebirs267607640
HLIrs267607640
Exacrs267607640
Gnomadrs267607640
Varsomers267607640
LitVarrs267607640
Maprs267607640
PheGenIrs267607640
Biobankrs267607640
1000 genomesrs267607640
hgdprs267607640
ensemblrs267607640
geneviewrs267607640
scholarrs267607640
googlers267607640
pharmgkbrs267607640
gwascentralrs267607640
openSNPrs267607640
23andMers267607640
SNPshotrs267607640
SNPdbers267607640
MSV3drs267607640
GWAS Ctlgrs267607640
Max Magnitude0
ClinVar
Risk rs267607640(A;A)
Alt rs267607640(A;A)
Reference Rs267607640(G;G)
Significance Pathogenic
Disease not provided Mandibuloacral dysostosis Limb-girdle muscular dystrophy
Variation info
Gene LMNA
CLNDBN not provided Mandibuloacral dysostosis Limb-girdle muscular dystrophy, type 1B
Reversed 0
HGVS NC_000001.10:g.156106820G>A
CLNSRC HGMD
CLNACC RCV000057305.3, RCV000180284.2, RCV000286225.1,