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rs397516738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516738(-;-)
Make rs397516738(-;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120455563
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516738
ebirs397516738
HLIrs397516738
Exacrs397516738
Varsomers397516738
Maprs397516738
PheGenIrs397516738
hapmaprs397516738
1000 genomesrs397516738
hgdprs397516738
ensemblrs397516738
gopubmedrs397516738
geneviewrs397516738
scholarrs397516738
googlers397516738
pharmgkbrs397516738
gwascentralrs397516738
openSNPrs397516738
23andMers397516738
23andMe allrs397516738
SNP Nexus

SNPshotrs397516738
SNPdbers397516738
MSV3drs397516738
GWAS Ctlgrs397516738
Max Magnitude0
ClinVar
Risk rs397516738(;)
Alt rs397516738(;)
Reference rs397516738(T;T)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119589418delA
CLNSRC ClinVar
CLNACC RCV000037410.2,