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rs312262724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262724(A;T)
Make rs312262724(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44651665
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262724
ebirs312262724
HLIrs312262724
Exacrs312262724
Varsomers312262724
Maprs312262724
PheGenIrs312262724
hapmaprs312262724
1000 genomesrs312262724
hgdprs312262724
ensemblrs312262724
gopubmedrs312262724
geneviewrs312262724
scholarrs312262724
googlers312262724
pharmgkbrs312262724
gwascentralrs312262724
openSNPrs312262724
23andMers312262724
23andMe allrs312262724
SNP Nexus

SNPshotrs312262724
SNPdbers312262724
MSV3drs312262724
GWAS Ctlgrs312262724
Max Magnitude0
ClinVar
Risk rs312262724(T;T)
Alt rs312262724(T;T)
Reference rs312262724(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44943863T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034171.2,


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