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rs730880479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880479(A;A)
Make rs730880479(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position120456646
GeneLAMP2
is asnp
is mentioned by
dbSNPrs730880479
dbSNP (classic)rs730880479
ClinGenrs730880479
ebirs730880479
HLIrs730880479
Exacrs730880479
Gnomadrs730880479
Varsomers730880479
LitVarrs730880479
Maprs730880479
PheGenIrs730880479
Biobankrs730880479
1000 genomesrs730880479
hgdprs730880479
ensemblrs730880479
geneviewrs730880479
scholarrs730880479
googlers730880479
pharmgkbrs730880479
gwascentralrs730880479
openSNPrs730880479
23andMers730880479
SNPshotrs730880479
SNPdbers730880479
MSV3drs730880479
GWAS Ctlgrs730880479
Max Magnitude0
ClinVar
Risk rs730880479(A;A)
Alt rs730880479(A;A)
Reference Rs730880479(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene LAMP2
CLNDBN not provided
Reversed 1
HGVS NC_000023.10:g.119590501C>T
CLNSRC
CLNACC RCV000157961.1,