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rs312262727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs312262727(-;-)
Make rs312262727(-;CT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44648996
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262727
ebirs312262727
HLIrs312262727
Exacrs312262727
Varsomers312262727
Maprs312262727
PheGenIrs312262727
hapmaprs312262727
1000 genomesrs312262727
hgdprs312262727
ensemblrs312262727
gopubmedrs312262727
geneviewrs312262727
scholarrs312262727
googlers312262727
pharmgkbrs312262727
gwascentralrs312262727
openSNPrs312262727
23andMers312262727
23andMe allrs312262727
SNP Nexus

SNPshotrs312262727
SNPdbers312262727
MSV3drs312262727
GWAS Ctlgrs312262727
Max Magnitude0
ClinVar
Risk rs312262727(;)
Alt rs312262727(;)
Reference rs312262727(CT;CT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44941194_44941195delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034174.2,


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