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

rs730880483

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880483(A;A)
Make rs730880483(A;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120446374
GeneLAMP2
is asnp
is mentioned by
dbSNPrs730880483
ebirs730880483
HLIrs730880483
Exacrs730880483
Varsomers730880483
Maprs730880483
PheGenIrs730880483
hapmaprs730880483
1000 genomesrs730880483
hgdprs730880483
ensemblrs730880483
gopubmedrs730880483
geneviewrs730880483
scholarrs730880483
googlers730880483
pharmgkbrs730880483
gwascentralrs730880483
openSNPrs730880483
23andMers730880483
23andMe allrs730880483
SNP Nexus

SNPshotrs730880483
SNPdbers730880483
MSV3drs730880483
GWAS Ctlgrs730880483
Max Magnitude0
ClinVar
Risk rs730880483(A;A)
Alt rs730880483(A;A)
Reference rs730880483(C;C)
Significance Pathogenic
Disease not provided Danon disease
Variation info
Gene LAMP2
CLNDBN not provided Danon disease
Reversed 1
HGVS NC_000023.10:g.119580229G>T
CLNSRC
CLNACC RCV000157969.2, RCV000208028.1,