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rs312262766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs312262766(-;-)
Make rs312262766(-;TG)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584269
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262766
ebirs312262766
HLIrs312262766
Exacrs312262766
Varsomers312262766
Maprs312262766
PheGenIrs312262766
hapmaprs312262766
1000 genomesrs312262766
hgdprs312262766
ensemblrs312262766
gopubmedrs312262766
geneviewrs312262766
scholarrs312262766
googlers312262766
pharmgkbrs312262766
gwascentralrs312262766
openSNPrs312262766
23andMers312262766
23andMe allrs312262766
SNP Nexus

SNPshotrs312262766
SNPdbers312262766
MSV3drs312262766
GWAS Ctlgrs312262766
Max Magnitude0
ClinVar
Risk rs312262766(;)
Alt rs312262766(;)
Reference rs312262766(TG;TG)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876467_44876468delCA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034224.2,


[PMID 19513778] Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.