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rs730880344

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880344(-;-)
Make rs730880344(-;AT)
Make rs730880344(AT;AT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120456704
GeneLAMP2
is asnp
is mentioned by
dbSNPrs730880344
ebirs730880344
HLIrs730880344
Exacrs730880344
Varsomers730880344
Maprs730880344
PheGenIrs730880344
hapmaprs730880344
1000 genomesrs730880344
hgdprs730880344
ensemblrs730880344
gopubmedrs730880344
geneviewrs730880344
scholarrs730880344
googlers730880344
pharmgkbrs730880344
gwascentralrs730880344
openSNPrs730880344
23andMers730880344
23andMe allrs730880344
SNP Nexus

SNPshotrs730880344
SNPdbers730880344
MSV3drs730880344
GWAS Ctlgrs730880344
Max Magnitude0
ClinVar
Risk rs730880344(AT;AT)
Alt rs730880344(AT;AT)
Reference rs730880344(;)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119590560_119590561dupAT
CLNSRC
CLNACC RCV000154670.1,