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rs727504742

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504742(A;A)
Make rs727504742(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120441729
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727504742
ebirs727504742
HLIrs727504742
Exacrs727504742
Varsomers727504742
Maprs727504742
PheGenIrs727504742
hapmaprs727504742
1000 genomesrs727504742
hgdprs727504742
ensemblrs727504742
gopubmedrs727504742
geneviewrs727504742
scholarrs727504742
googlers727504742
pharmgkbrs727504742
gwascentralrs727504742
openSNPrs727504742
23andMers727504742
23andMe allrs727504742
SNP Nexus

SNPshotrs727504742
SNPdbers727504742
MSV3drs727504742
GWAS Ctlgrs727504742
Max Magnitude0
ClinVar
Risk rs727504742(A;A)
Alt rs727504742(A;A)
Reference rs727504742(G;G)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119575584C>T
CLNSRC
CLNACC RCV000156041.1,