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rs863224514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224514(-;-)
Make rs863224514(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32087540
GeneSPAST
is asnp
is mentioned by
dbSNPrs863224514
dbSNP (classic)rs863224514
ClinGenrs863224514
ebirs863224514
HLIrs863224514
Exacrs863224514
Gnomadrs863224514
Varsomers863224514
LitVarrs863224514
Maprs863224514
PheGenIrs863224514
Biobankrs863224514
1000 genomesrs863224514
hgdprs863224514
ensemblrs863224514
geneviewrs863224514
scholarrs863224514
googlers863224514
pharmgkbrs863224514
gwascentralrs863224514
openSNPrs863224514
23andMers863224514
SNPshotrs863224514
SNPdbers863224514
MSV3drs863224514
GWAS Ctlgrs863224514
Max Magnitude0
ClinVar
Risk rs863224514(-;-)
Alt rs863224514(-;-)
Reference Rs863224514(A;A)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32312609delA
CLNSRC
CLNACC RCV000200095.1,