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rs1060502305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060502305(C;G)
Make rs1060502305(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position120441810
GeneLAMP2
is asnp
is mentioned by
dbSNPrs1060502305
dbSNP (old)rs1060502305
ClinGenrs1060502305
ebirs1060502305
HLIrs1060502305
Exacrs1060502305
Gnomadrs1060502305
Varsomers1060502305
Maprs1060502305
PheGenIrs1060502305
Biobankrs1060502305
1000 genomesrs1060502305
hgdprs1060502305
ensemblrs1060502305
gopubmedrs1060502305
geneviewrs1060502305
scholarrs1060502305
googlers1060502305
pharmgkbrs1060502305
gwascentralrs1060502305
openSNPrs1060502305
23andMers1060502305
23andMe allrs1060502305
SNPshotrs1060502305
SNPdbers1060502305
MSV3drs1060502305
GWAS Ctlgrs1060502305
Max Magnitude0
ClinVar
Risk rs1060502305(G;G)
Alt rs1060502305(G;G)
Reference Rs1060502305(C;C)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119575665G>C
CLNSRC
CLNACC RCV000456892.1,