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rs199588440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199588440(A;A)
Make rs199588440(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44628785
GeneSPG11
is asnp
is mentioned by
dbSNPrs199588440
ebirs199588440
HLIrs199588440
Exacrs199588440
Varsomers199588440
Maprs199588440
PheGenIrs199588440
hapmaprs199588440
1000 genomesrs199588440
hgdprs199588440
ensemblrs199588440
gopubmedrs199588440
geneviewrs199588440
scholarrs199588440
googlers199588440
pharmgkbrs199588440
gwascentralrs199588440
openSNPrs199588440
23andMers199588440
23andMe allrs199588440
SNP Nexus

SNPshotrs199588440
SNPdbers199588440
MSV3drs199588440
GWAS Ctlgrs199588440
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs199588440(A;A)
Alt rs199588440(A;A)
Reference rs199588440(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.44920983G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034185.2,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.