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rs312262776

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGT;CTGT) 0 common in clinvar
Make rs312262776(-;-)
Make rs312262776(-;CTGT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574916
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262776
ebirs312262776
HLIrs312262776
Exacrs312262776
Varsomers312262776
Maprs312262776
PheGenIrs312262776
hapmaprs312262776
1000 genomesrs312262776
hgdprs312262776
ensemblrs312262776
gopubmedrs312262776
geneviewrs312262776
scholarrs312262776
googlers312262776
pharmgkbrs312262776
gwascentralrs312262776
openSNPrs312262776
23andMers312262776
23andMe allrs312262776
SNP Nexus

SNPshotrs312262776
SNPdbers312262776
MSV3drs312262776
GWAS Ctlgrs312262776
Max Magnitude0
ClinVar
Risk rs312262776(;)
Alt rs312262776(;)
Reference rs312262776(CTGT;CTGT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867114_44867117delACAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034236.3,


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