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rs312262729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs312262729(-;-)
Make rs312262729(-;CT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44648918
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262729
ebirs312262729
HLIrs312262729
Exacrs312262729
Varsomers312262729
Maprs312262729
PheGenIrs312262729
hapmaprs312262729
1000 genomesrs312262729
hgdprs312262729
ensemblrs312262729
gopubmedrs312262729
geneviewrs312262729
scholarrs312262729
googlers312262729
pharmgkbrs312262729
gwascentralrs312262729
openSNPrs312262729
23andMers312262729
23andMe allrs312262729
SNP Nexus

SNPshotrs312262729
SNPdbers312262729
MSV3drs312262729
GWAS Ctlgrs312262729
Max Magnitude0
ClinVar
Risk rs312262729(;)
Alt rs312262729(;)
Reference rs312262729(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.44941116_44941117delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034175.2,


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