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rs312262717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262717(-;-)
Make rs312262717(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44659104
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262717
ebirs312262717
HLIrs312262717
Exacrs312262717
Varsomers312262717
Maprs312262717
PheGenIrs312262717
hapmaprs312262717
1000 genomesrs312262717
hgdprs312262717
ensemblrs312262717
gopubmedrs312262717
geneviewrs312262717
scholarrs312262717
googlers312262717
pharmgkbrs312262717
gwascentralrs312262717
openSNPrs312262717
23andMers312262717
23andMe allrs312262717
SNP Nexus

SNPshotrs312262717
SNPdbers312262717
MSV3drs312262717
GWAS Ctlgrs312262717
Max Magnitude0
ClinVar
Risk rs312262717(;)
Alt rs312262717(;)
Reference rs312262717(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44951302delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034244.2,


[PMID 19194956] SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.