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rs397516739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397516739(-;-)
Make rs397516739(-;A)
Make rs397516739(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120455536
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516739
ebirs397516739
HLIrs397516739
Exacrs397516739
Varsomers397516739
Maprs397516739
PheGenIrs397516739
hapmaprs397516739
1000 genomesrs397516739
hgdprs397516739
ensemblrs397516739
gopubmedrs397516739
geneviewrs397516739
scholarrs397516739
googlers397516739
pharmgkbrs397516739
gwascentralrs397516739
openSNPrs397516739
23andMers397516739
23andMe allrs397516739
SNP Nexus

SNPshotrs397516739
SNPdbers397516739
MSV3drs397516739
GWAS Ctlgrs397516739
Max Magnitude0
ClinVar
Risk rs397516739(A;A)
Alt rs397516739(A;A)
Reference rs397516739(;)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119589392dupT
CLNSRC ClinVar
CLNACC RCV000037411.2,