Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880492

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880492(-;-)
Make rs730880492(-;CAACA)
Make rs730880492(CAACA;CAACA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120447993
GeneLAMP2
is asnp
is mentioned by
dbSNPrs730880492
ebirs730880492
HLIrs730880492
Exacrs730880492
Varsomers730880492
Maprs730880492
PheGenIrs730880492
hapmaprs730880492
1000 genomesrs730880492
hgdprs730880492
ensemblrs730880492
gopubmedrs730880492
geneviewrs730880492
scholarrs730880492
googlers730880492
pharmgkbrs730880492
gwascentralrs730880492
openSNPrs730880492
23andMers730880492
23andMe allrs730880492
SNP Nexus

SNPshotrs730880492
SNPdbers730880492
MSV3drs730880492
GWAS Ctlgrs730880492
Max Magnitude0
ClinVar
Risk rs730880492(CAACA;CAACA)
Alt rs730880492(CAACA;CAACA)
Reference rs730880492(;)
Significance Pathogenic
Disease Cardiomyopathy Danon disease
Variation info
Gene LAMP2
CLNDBN Cardiomyopathy Danon disease
Reversed 1
HGVS NC_000023.10:g.119581848_119581849insTGTTG
CLNSRC
CLNACC RCV000157984.1,