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rs312262764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs312262764(-;-)
Make rs312262764(-;AG)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584225
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262764
ebirs312262764
HLIrs312262764
Exacrs312262764
Varsomers312262764
Maprs312262764
PheGenIrs312262764
hapmaprs312262764
1000 genomesrs312262764
hgdprs312262764
ensemblrs312262764
gopubmedrs312262764
geneviewrs312262764
scholarrs312262764
googlers312262764
pharmgkbrs312262764
gwascentralrs312262764
openSNPrs312262764
23andMers312262764
23andMe allrs312262764
SNP Nexus

SNPshotrs312262764
SNPdbers312262764
MSV3drs312262764
GWAS Ctlgrs312262764
Max Magnitude0
ClinVar
Risk rs312262764(;)
Alt rs312262764(;)
Reference rs312262764(AG;AG)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876423_44876424delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034269.2,


[PMID 18337587OA-icon.png] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.