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rs397516743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516743(A;G)
Make rs397516743(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120456771
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516743
ebirs397516743
HLIrs397516743
Exacrs397516743
Varsomers397516743
Maprs397516743
PheGenIrs397516743
hapmaprs397516743
1000 genomesrs397516743
hgdprs397516743
ensemblrs397516743
gopubmedrs397516743
geneviewrs397516743
scholarrs397516743
googlers397516743
pharmgkbrs397516743
gwascentralrs397516743
openSNPrs397516743
23andMers397516743
23andMe allrs397516743
SNP Nexus

SNPshotrs397516743
SNPdbers397516743
MSV3drs397516743
GWAS Ctlgrs397516743
Max Magnitude0
ClinVar
Risk rs397516743(G;G)
Alt rs397516743(G;G)
Reference rs397516743(A;A)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119590626T>C
CLNSRC ClinVar
CLNACC RCV000037416.2,