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rs1060502306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502306(A;A)
Make rs1060502306(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position120441861
GeneLAMP2
is asnp
is mentioned by
dbSNPrs1060502306
dbSNP (classic)rs1060502306
ClinGenrs1060502306
ebirs1060502306
HLIrs1060502306
Exacrs1060502306
Gnomadrs1060502306
Varsomers1060502306
LitVarrs1060502306
Maprs1060502306
PheGenIrs1060502306
Biobankrs1060502306
1000 genomesrs1060502306
hgdprs1060502306
ensemblrs1060502306
geneviewrs1060502306
scholarrs1060502306
googlers1060502306
pharmgkbrs1060502306
gwascentralrs1060502306
openSNPrs1060502306
23andMers1060502306
23andMe allrs1060502306
SNPshotrs1060502306
SNPdbers1060502306
MSV3drs1060502306
GWAS Ctlgrs1060502306
Max Magnitude0
ClinVar
Risk rs1060502306(A;A)
Alt rs1060502306(A;A)
Reference Rs1060502306(G;G)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119575716C>T
CLNSRC
CLNACC RCV000465984.1,