Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262740(A;A)
Make rs312262740(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44622727
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262740
ebirs312262740
HLIrs312262740
Exacrs312262740
Varsomers312262740
Maprs312262740
PheGenIrs312262740
hapmaprs312262740
1000 genomesrs312262740
hgdprs312262740
ensemblrs312262740
gopubmedrs312262740
geneviewrs312262740
scholarrs312262740
googlers312262740
pharmgkbrs312262740
gwascentralrs312262740
openSNPrs312262740
23andMers312262740
23andMe allrs312262740
SNP Nexus

SNPshotrs312262740
SNPdbers312262740
MSV3drs312262740
GWAS Ctlgrs312262740
Max Magnitude0
ClinVar
Risk rs312262740(A;A)
Alt rs312262740(A;A)
Reference rs312262740(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44914925C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034189.2,


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