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rs312262779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262779(-;-)
Make rs312262779(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44570551
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262779
ebirs312262779
HLIrs312262779
Exacrs312262779
Varsomers312262779
Maprs312262779
PheGenIrs312262779
hapmaprs312262779
1000 genomesrs312262779
hgdprs312262779
ensemblrs312262779
gopubmedrs312262779
geneviewrs312262779
scholarrs312262779
googlers312262779
pharmgkbrs312262779
gwascentralrs312262779
openSNPrs312262779
23andMers312262779
23andMe allrs312262779
SNP Nexus

SNPshotrs312262779
SNPdbers312262779
MSV3drs312262779
GWAS Ctlgrs312262779
Max Magnitude0
ClinVar
Risk rs312262779(;)
Alt rs312262779(;)
Reference rs312262779(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.44862749delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034245.2,


[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.