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rs312262783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs312262783(-;C)
Make rs312262783(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position44566269
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262783
ClinGenrs312262783
ebirs312262783
HLIrs312262783
Exacrs312262783
Varsomers312262783
Maprs312262783
PheGenIrs312262783
hapmaprs312262783
1000 genomesrs312262783
hgdprs312262783
ensemblrs312262783
gopubmedrs312262783
geneviewrs312262783
scholarrs312262783
googlers312262783
pharmgkbrs312262783
gwascentralrs312262783
openSNPrs312262783
23andMers312262783
23andMe allrs312262783
SNP Nexus

SNPshotrs312262783
SNPdbers312262783
MSV3drs312262783
GWAS Ctlgrs312262783
Max Magnitude0
ClinVar
Risk rs312262783(C;C)
Alt rs312262783(C;C)
Reference Rs312262783(-;-)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44858468dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034251.2,


[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.