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rs587777754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777754(C;C)
Make rs587777754(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position32147259
GeneSPAST
is asnp
is mentioned by
dbSNPrs587777754
dbSNP (classic)rs587777754
ClinGenrs587777754
ebirs587777754
HLIrs587777754
Exacrs587777754
Gnomadrs587777754
Varsomers587777754
LitVarrs587777754
Maprs587777754
PheGenIrs587777754
Biobankrs587777754
1000 genomesrs587777754
hgdprs587777754
ensemblrs587777754
geneviewrs587777754
scholarrs587777754
googlers587777754
pharmgkbrs587777754
gwascentralrs587777754
openSNPrs587777754
23andMers587777754
SNPshotrs587777754
SNPdbers587777754
MSV3drs587777754
GWAS Ctlgrs587777754
Max Magnitude0
ClinVar
Risk rs587777754(C;C)
Alt rs587777754(C;C)
Reference Rs587777754(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.32372328G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006019.2,