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rs730880493

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880493(-;-)
Make rs730880493(-;A)
Make rs730880493(A;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120447930
GeneLAMP2
is asnp
is mentioned by
dbSNPrs730880493
ebirs730880493
HLIrs730880493
Exacrs730880493
Varsomers730880493
Maprs730880493
PheGenIrs730880493
hapmaprs730880493
1000 genomesrs730880493
hgdprs730880493
ensemblrs730880493
gopubmedrs730880493
geneviewrs730880493
scholarrs730880493
googlers730880493
pharmgkbrs730880493
gwascentralrs730880493
openSNPrs730880493
23andMers730880493
23andMe allrs730880493
SNP Nexus

SNPshotrs730880493
SNPdbers730880493
MSV3drs730880493
GWAS Ctlgrs730880493
Max Magnitude0
ClinVar
Risk rs730880493(A;A)
Alt rs730880493(A;A)
Reference rs730880493(;)
Significance Pathogenic
Disease Cardiomyopathy Danon disease
Variation info
Gene LAMP2
CLNDBN Cardiomyopathy Danon disease
Reversed 1
HGVS NC_000023.10:g.119581786dupT
CLNSRC
CLNACC RCV000157985.1,