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rs397516751

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGT;GAGT) 0 common in clinvar
Make rs397516751(-;-)
Make rs397516751(-;GAGT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120446299
GeneLAMP2
is asnp
is mentioned by
dbSNPrs397516751
ebirs397516751
HLIrs397516751
Exacrs397516751
Varsomers397516751
Maprs397516751
PheGenIrs397516751
hapmaprs397516751
1000 genomesrs397516751
hgdprs397516751
ensemblrs397516751
gopubmedrs397516751
geneviewrs397516751
scholarrs397516751
googlers397516751
pharmgkbrs397516751
gwascentralrs397516751
openSNPrs397516751
23andMers397516751
23andMe allrs397516751
SNP Nexus

SNPshotrs397516751
SNPdbers397516751
MSV3drs397516751
GWAS Ctlgrs397516751
Max Magnitude0
ClinVar
Risk rs397516751(;)
Alt rs397516751(;)
Reference rs397516751(GAGT;GAGT)
Significance Pathogenic
Disease Danon disease Cardiomyopathy
Variation info
Gene LAMP2
CLNDBN Danon disease Cardiomyopathy
Reversed 1
HGVS NC_000023.10:g.119580154_119580157delACTC
CLNSRC ClinVar
CLNACC RCV000037432.2, RCV000157986.1,