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rs397516736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516736(A;A)
Make rs397516736(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120456651
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516736
ebirs397516736
HLIrs397516736
Exacrs397516736
Varsomers397516736
Maprs397516736
PheGenIrs397516736
hapmaprs397516736
1000 genomesrs397516736
hgdprs397516736
ensemblrs397516736
gopubmedrs397516736
geneviewrs397516736
scholarrs397516736
googlers397516736
pharmgkbrs397516736
gwascentralrs397516736
openSNPrs397516736
23andMers397516736
23andMe allrs397516736
SNP Nexus

SNPshotrs397516736
SNPdbers397516736
MSV3drs397516736
GWAS Ctlgrs397516736
Max Magnitude0
ClinVar
Risk rs397516736(A,C,G;A,C,G)
Alt rs397516736(A,C,G;A,C,G)
Reference rs397516736(T;T)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119590506A>C; NC_000023.10:g.119590506A>T
CLNSRC ClinVar
CLNACC RCV000037408.2, RCV000037407.2,