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rs864309525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
(GAG;GAG) 0 common/normal
Make rs864309525(-;-)
Make rs864309525(-;GAG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156115009
GeneLMNA
is asnp
is mentioned by
dbSNPrs864309525
dbSNP (classic)rs864309525
ClinGenrs864309525
ebirs864309525
HLIrs864309525
Exacrs864309525
Gnomadrs864309525
Varsomers864309525
LitVarrs864309525
Maprs864309525
PheGenIrs864309525
Biobankrs864309525
1000 genomesrs864309525
hgdprs864309525
ensemblrs864309525
geneviewrs864309525
scholarrs864309525
googlers864309525
pharmgkbrs864309525
gwascentralrs864309525
openSNPrs864309525
23andMers864309525
SNPshotrs864309525
SNPdbers864309525
MSV3drs864309525
GWAS Ctlgrs864309525
Max Magnitude0
ClinVar
Risk rs864309525(-;-)
Alt rs864309525(-;-)
Reference Rs864309525(AGG;AGG)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene LMNA
CLNDBN Congenital muscular dystrophy, LMNA-related
Reversed 0
HGVS NC_000001.10:g.156084800_156084802delGAG
CLNSRC
CLNACC RCV000202605.1,