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rs142053576

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs142053576(A;G)
Make rs142053576(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position32144945
GeneSPAST
is asnp
is mentioned by
dbSNPrs142053576
dbSNP (classic)rs142053576
ClinGenrs142053576
ebirs142053576
HLIrs142053576
Exacrs142053576
Gnomadrs142053576
Varsomers142053576
LitVarrs142053576
Maprs142053576
PheGenIrs142053576
Biobankrs142053576
1000 genomesrs142053576
hgdprs142053576
ensemblrs142053576
geneviewrs142053576
scholarrs142053576
googlers142053576
pharmgkbrs142053576
gwascentralrs142053576
openSNPrs142053576
23andMers142053576
SNPshotrs142053576
SNPdbers142053576
MSV3drs142053576
GWAS Ctlgrs142053576
Max Magnitude0
ClinVar
Risk rs142053576(G;G)
Alt rs142053576(G;G)
Reference Rs142053576(A;A)
Significance Probable-Pathogenic
Disease Spastic paraplegia 4 not provided
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant not provided
Reversed 0
HGVS NC_000002.11:g.32370014A>G
CLNSRC
CLNACC RCV000199081.1, RCV000486146.1,