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rs727504600

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504600(-;-)
Make rs727504600(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120456713
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727504600
ebirs727504600
HLIrs727504600
Exacrs727504600
Varsomers727504600
Maprs727504600
PheGenIrs727504600
hapmaprs727504600
1000 genomesrs727504600
hgdprs727504600
ensemblrs727504600
gopubmedrs727504600
geneviewrs727504600
scholarrs727504600
googlers727504600
pharmgkbrs727504600
gwascentralrs727504600
openSNPrs727504600
23andMers727504600
23andMe allrs727504600
SNP Nexus

SNPshotrs727504600
SNPdbers727504600
MSV3drs727504600
GWAS Ctlgrs727504600
Max Magnitude0
ClinVar
Risk rs727504600(;)
Alt rs727504600(;)
Reference rs727504600(T;T)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119590568delA
CLNSRC
CLNACC RCV000155846.1,