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rs863224923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224923(A;A)
Make rs863224923(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32145005
GeneSPAST
is asnp
is mentioned by
dbSNPrs863224923
dbSNP (classic)rs863224923
ClinGenrs863224923
ebirs863224923
HLIrs863224923
Exacrs863224923
Gnomadrs863224923
Varsomers863224923
LitVarrs863224923
Maprs863224923
PheGenIrs863224923
Biobankrs863224923
1000 genomesrs863224923
hgdprs863224923
ensemblrs863224923
geneviewrs863224923
scholarrs863224923
googlers863224923
pharmgkbrs863224923
gwascentralrs863224923
openSNPrs863224923
23andMers863224923
SNPshotrs863224923
SNPdbers863224923
MSV3drs863224923
GWAS Ctlgrs863224923
Max Magnitude0
ClinVar
Risk rs863224923(A;A)
Alt rs863224923(A;A)
Reference Rs863224923(G;G)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32370074G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000195806.1,