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rs727504557

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504557(-;-)
Make rs727504557(-;A)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120441824
GeneLAMP2
is asnp
is mentioned by
dbSNPrs727504557
ebirs727504557
HLIrs727504557
Exacrs727504557
Varsomers727504557
Maprs727504557
PheGenIrs727504557
hapmaprs727504557
1000 genomesrs727504557
hgdprs727504557
ensemblrs727504557
gopubmedrs727504557
geneviewrs727504557
scholarrs727504557
googlers727504557
pharmgkbrs727504557
gwascentralrs727504557
openSNPrs727504557
23andMers727504557
23andMe allrs727504557
SNP Nexus

SNPshotrs727504557
SNPdbers727504557
MSV3drs727504557
GWAS Ctlgrs727504557
Max Magnitude0
ClinVar
Risk rs727504557(;)
Alt rs727504557(;)
Reference rs727504557(A;A)
Significance Probable-Pathogenic
Disease Danon disease
Variation info
Gene LAMP2
CLNDBN Danon disease
Reversed 1
HGVS NC_000023.10:g.119575679delT
CLNSRC
CLNACC RCV000155721.1,