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rs587777751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777751(-;-)
Make rs587777751(-;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position32136950
GeneSPAST
is asnp
is mentioned by
dbSNPrs587777751
dbSNP (classic)rs587777751
ClinGenrs587777751
ebirs587777751
HLIrs587777751
Exacrs587777751
Gnomadrs587777751
Varsomers587777751
LitVarrs587777751
Maprs587777751
PheGenIrs587777751
Biobankrs587777751
1000 genomesrs587777751
hgdprs587777751
ensemblrs587777751
geneviewrs587777751
scholarrs587777751
googlers587777751
pharmgkbrs587777751
gwascentralrs587777751
openSNPrs587777751
23andMers587777751
SNPshotrs587777751
SNPdbers587777751
MSV3drs587777751
GWAS Ctlgrs587777751
Max Magnitude0
ClinVar
Risk rs587777751(-;-)
Alt rs587777751(-;-)
Reference Rs587777751(T;T)
Significance Pathogenic
Disease Spastic paraplegia 4
Variation info
Gene SPAST
CLNDBN Spastic paraplegia 4, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.32362019delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006013.2,