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rs312262768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs312262768(-;-)
Make rs312262768(-;CA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584147
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262768
ebirs312262768
HLIrs312262768
Exacrs312262768
Varsomers312262768
Maprs312262768
PheGenIrs312262768
hapmaprs312262768
1000 genomesrs312262768
hgdprs312262768
ensemblrs312262768
gopubmedrs312262768
geneviewrs312262768
scholarrs312262768
googlers312262768
pharmgkbrs312262768
gwascentralrs312262768
openSNPrs312262768
23andMers312262768
23andMe allrs312262768
SNP Nexus

SNPshotrs312262768
SNPdbers312262768
MSV3drs312262768
GWAS Ctlgrs312262768
Max Magnitude0
ClinVar
Risk rs312262768(;)
Alt rs312262768(;)
Reference rs312262768(CA;CA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876345_44876346delTG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034226.2,


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