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rs312262784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs312262784(-;-)
Make rs312262784(-;AG)
ReferenceGRCh38 38.1/141
Chromosome15
Position44566227
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262784
ebirs312262784
HLIrs312262784
Exacrs312262784
Varsomers312262784
Maprs312262784
PheGenIrs312262784
hapmaprs312262784
1000 genomesrs312262784
hgdprs312262784
ensemblrs312262784
gopubmedrs312262784
geneviewrs312262784
scholarrs312262784
googlers312262784
pharmgkbrs312262784
gwascentralrs312262784
openSNPrs312262784
23andMers312262784
23andMe allrs312262784
SNP Nexus

SNPshotrs312262784
SNPdbers312262784
MSV3drs312262784
GWAS Ctlgrs312262784
Max Magnitude0
ClinVar
Risk rs312262784(;)
Alt rs312262784(;)
Reference rs312262784(AG;AG)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44858425_44858426delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034252.2,


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