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rs267607551

From SNPedia

Merged intors267607540
Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs267607551(-;-)
Make rs267607551(-;GAA)
Make rs267607551(GAA;GAA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156134513
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607551
dbSNP (classic)rs267607551
ClinGenrs267607551
ebirs267607551
HLIrs267607551
Exacrs267607551
Gnomadrs267607551
Varsomers267607551
LitVarrs267607551
Maprs267607551
PheGenIrs267607551
Biobankrs267607551
1000 genomesrs267607551
hgdprs267607551
ensemblrs267607551
geneviewrs267607551
scholarrs267607551
googlers267607551
pharmgkbrs267607551
gwascentralrs267607551
openSNPrs267607551
23andMers267607551
SNPshotrs267607551
SNPdbers267607551
MSV3drs267607551
GWAS Ctlgrs267607551
StatusMerged into rs267607540
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs267607551(AGA;AGA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Limb-girdle muscular dystrophy, type 1B not provided
Reversed 0
HGVS NC_000001.10:g.156104304_156104306delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000015588.26, RCV000057433.2,