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rs397516752

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516752(C;C)
Make rs397516752(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120442663
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516752
ebirs397516752
HLIrs397516752
Exacrs397516752
Varsomers397516752
Maprs397516752
PheGenIrs397516752
hapmaprs397516752
1000 genomesrs397516752
hgdprs397516752
ensemblrs397516752
gopubmedrs397516752
geneviewrs397516752
scholarrs397516752
googlers397516752
pharmgkbrs397516752
gwascentralrs397516752
openSNPrs397516752
23andMers397516752
23andMe allrs397516752
SNP Nexus

SNPshotrs397516752
SNPdbers397516752
MSV3drs397516752
GWAS Ctlgrs397516752
Max Magnitude0
ClinVar
Risk rs397516752(C;C)
Alt rs397516752(C;C)
Reference rs397516752(G;G)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119576518C>G
CLNSRC ClinVar
CLNACC RCV000037433.2,