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rs312262719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs312262719(-;-)
Make rs312262719(-;AT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44657259
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262719
ebirs312262719
HLIrs312262719
Exacrs312262719
Varsomers312262719
Maprs312262719
PheGenIrs312262719
hapmaprs312262719
1000 genomesrs312262719
hgdprs312262719
ensemblrs312262719
gopubmedrs312262719
geneviewrs312262719
scholarrs312262719
googlers312262719
pharmgkbrs312262719
gwascentralrs312262719
openSNPrs312262719
23andMers312262719
23andMe allrs312262719
SNP Nexus

SNPshotrs312262719
SNPdbers312262719
MSV3drs312262719
GWAS Ctlgrs312262719
Max Magnitude0
ClinVar
Risk rs312262719(;)
Alt rs312262719(;)
Reference rs312262719(AT;AT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44949457_44949458delAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034260.2,


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