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rs1060502303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502303(-;-)
Make rs1060502303(-;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position120446381
GeneLAMP2
is asnp
is mentioned by
dbSNPrs1060502303
dbSNP (classic)rs1060502303
ClinGenrs1060502303
ebirs1060502303
HLIrs1060502303
Exacrs1060502303
Gnomadrs1060502303
Varsomers1060502303
LitVarrs1060502303
Maprs1060502303
PheGenIrs1060502303
Biobankrs1060502303
1000 genomesrs1060502303
hgdprs1060502303
ensemblrs1060502303
geneviewrs1060502303
scholarrs1060502303
googlers1060502303
pharmgkbrs1060502303
gwascentralrs1060502303
openSNPrs1060502303
23andMers1060502303
SNPshotrs1060502303
SNPdbers1060502303
MSV3drs1060502303
GWAS Ctlgrs1060502303
Max Magnitude0
ClinVar
Risk rs1060502303(-;-)
Alt rs1060502303(-;-)
Reference Rs1060502303(G;G)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119580236delC
CLNSRC
CLNACC RCV000477190.1,