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rs312262731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262731(-;-)
Make rs312262731(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44633572
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262731
ebirs312262731
HLIrs312262731
Exacrs312262731
Varsomers312262731
Maprs312262731
PheGenIrs312262731
hapmaprs312262731
1000 genomesrs312262731
hgdprs312262731
ensemblrs312262731
gopubmedrs312262731
geneviewrs312262731
scholarrs312262731
googlers312262731
pharmgkbrs312262731
gwascentralrs312262731
openSNPrs312262731
23andMers312262731
23andMe allrs312262731
SNP Nexus

SNPshotrs312262731
SNPdbers312262731
MSV3drs312262731
GWAS Ctlgrs312262731
Max Magnitude0
ClinVar
Risk rs312262731(;)
Alt rs312262731(;)
Reference rs312262731(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44925770delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034179.2,


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