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rs312262782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGT;GAGT) 0 common in clinvar
Make rs312262782(-;-)
Make rs312262782(-;GAGT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44567436
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262782
ebirs312262782
HLIrs312262782
Exacrs312262782
Varsomers312262782
Maprs312262782
PheGenIrs312262782
hapmaprs312262782
1000 genomesrs312262782
hgdprs312262782
ensemblrs312262782
gopubmedrs312262782
geneviewrs312262782
scholarrs312262782
googlers312262782
pharmgkbrs312262782
gwascentralrs312262782
openSNPrs312262782
23andMers312262782
23andMe allrs312262782
SNP Nexus

SNPshotrs312262782
SNPdbers312262782
MSV3drs312262782
GWAS Ctlgrs312262782
Max Magnitude0
ClinVar
Risk rs312262782(;)
Alt rs312262782(;)
Reference rs312262782(GAGT;GAGT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44859634_44859637delACTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034249.2,


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