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rs727503118

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503118(C;T)
Make rs727503118(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120442650
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727503118
ebirs727503118
HLIrs727503118
Exacrs727503118
Varsomers727503118
Maprs727503118
PheGenIrs727503118
hapmaprs727503118
1000 genomesrs727503118
hgdprs727503118
ensemblrs727503118
gopubmedrs727503118
geneviewrs727503118
scholarrs727503118
googlers727503118
pharmgkbrs727503118
gwascentralrs727503118
openSNPrs727503118
23andMers727503118
23andMe allrs727503118
SNP Nexus

SNPshotrs727503118
SNPdbers727503118
MSV3drs727503118
GWAS Ctlgrs727503118
Max Magnitude0
ClinVar
Risk rs727503118(A,T;A,T)
Alt rs727503118(A,T;A,T)
Reference rs727503118(C;C)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119576505G>A
CLNSRC
CLNACC RCV000150911.2,