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rs1060502215

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502215(A;A)
Make rs1060502215(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position156115040
GeneLMNA
is asnp
is mentioned by
dbSNPrs1060502215
dbSNP (old)rs1060502215
ClinGenrs1060502215
ebirs1060502215
HLIrs1060502215
Exacrs1060502215
Gnomadrs1060502215
Varsomers1060502215
Maprs1060502215
PheGenIrs1060502215
Biobankrs1060502215
1000 genomesrs1060502215
hgdprs1060502215
ensemblrs1060502215
gopubmedrs1060502215
geneviewrs1060502215
scholarrs1060502215
googlers1060502215
pharmgkbrs1060502215
gwascentralrs1060502215
openSNPrs1060502215
23andMers1060502215
23andMe allrs1060502215
SNPshotrs1060502215
SNPdbers1060502215
MSV3drs1060502215
GWAS Ctlgrs1060502215
Max Magnitude0
ClinVar
Risk rs1060502215(A;A)
Alt rs1060502215(A;A)
Reference Rs1060502215(G;G)
Significance Probable-Pathogenic
Disease Emery-Dreifuss muscular dystrophy
Variation info
Gene LMNA
CLNDBN Emery-Dreifuss muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.156084831G>A
CLNSRC
CLNACC RCV000457713.1,