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rs587777757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777757(A;G)
Make rs587777757(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position32128450
GeneSPAST
is asnp
is mentioned by
dbSNPrs587777757
dbSNP (classic)rs587777757
ClinGenrs587777757
ebirs587777757
HLIrs587777757
Exacrs587777757
Gnomadrs587777757
Varsomers587777757
LitVarrs587777757
Maprs587777757
PheGenIrs587777757
Biobankrs587777757
1000 genomesrs587777757
hgdprs587777757
ensemblrs587777757
geneviewrs587777757
scholarrs587777757
googlers587777757
pharmgkbrs587777757
gwascentralrs587777757
openSNPrs587777757
23andMers587777757
SNPshotrs587777757
SNPdbers587777757
MSV3drs587777757
GWAS Ctlgrs587777757
Max Magnitude0
ClinVar
Risk rs587777757(G;G)
Alt rs587777757(G;G)
Reference Rs587777757(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.32353519A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006029.2,