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rs863224513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224513(-;-)
Make rs863224513(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32128479
GeneSPAST
is asnp
is mentioned by
dbSNPrs863224513
dbSNP (classic)rs863224513
ClinGenrs863224513
ebirs863224513
HLIrs863224513
Exacrs863224513
Gnomadrs863224513
Varsomers863224513
LitVarrs863224513
Maprs863224513
PheGenIrs863224513
Biobankrs863224513
1000 genomesrs863224513
hgdprs863224513
ensemblrs863224513
geneviewrs863224513
scholarrs863224513
googlers863224513
pharmgkbrs863224513
gwascentralrs863224513
openSNPrs863224513
23andMers863224513
SNPshotrs863224513
SNPdbers863224513
MSV3drs863224513
GWAS Ctlgrs863224513
Max Magnitude0
ClinVar
Risk rs863224513(-;-)
Alt rs863224513(-;-)
Reference Rs863224513(C;C)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32353548delC
CLNSRC
CLNACC RCV000200188.1,