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rs727504648

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs727504648(-;-)
Make rs727504648(-;TT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120446317
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727504648
ebirs727504648
HLIrs727504648
Exacrs727504648
Varsomers727504648
Maprs727504648
PheGenIrs727504648
hapmaprs727504648
1000 genomesrs727504648
hgdprs727504648
ensemblrs727504648
gopubmedrs727504648
geneviewrs727504648
scholarrs727504648
googlers727504648
pharmgkbrs727504648
gwascentralrs727504648
openSNPrs727504648
23andMers727504648
23andMe allrs727504648
SNP Nexus

SNPshotrs727504648
SNPdbers727504648
MSV3drs727504648
GWAS Ctlgrs727504648
Max Magnitude0
ClinVar
Risk rs727504648(;)
Alt rs727504648(;)
Reference rs727504648(TT;TT)
Significance Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119580172_119580173delAA
CLNSRC
CLNACC RCV000155911.1,