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rs727504597

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504597(-;-)
Make rs727504597(-;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120441803
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727504597
ebirs727504597
HLIrs727504597
Exacrs727504597
Varsomers727504597
Maprs727504597
PheGenIrs727504597
hapmaprs727504597
1000 genomesrs727504597
hgdprs727504597
ensemblrs727504597
gopubmedrs727504597
geneviewrs727504597
scholarrs727504597
googlers727504597
pharmgkbrs727504597
gwascentralrs727504597
openSNPrs727504597
23andMers727504597
23andMe allrs727504597
SNP Nexus

SNPshotrs727504597
SNPdbers727504597
MSV3drs727504597
GWAS Ctlgrs727504597
Max Magnitude0
ClinVar
Risk rs727504597(;)
Alt rs727504597(;)
Reference rs727504597(T;T)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119575658delA
CLNSRC
CLNACC RCV000155777.1,