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rs312262778

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262778(C;C)
Make rs312262778(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44572821
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262778
ebirs312262778
HLIrs312262778
Exacrs312262778
Varsomers312262778
Maprs312262778
PheGenIrs312262778
hapmaprs312262778
1000 genomesrs312262778
hgdprs312262778
ensemblrs312262778
gopubmedrs312262778
geneviewrs312262778
scholarrs312262778
googlers312262778
pharmgkbrs312262778
gwascentralrs312262778
openSNPrs312262778
23andMers312262778
23andMe allrs312262778
SNP Nexus

SNPshotrs312262778
SNPdbers312262778
MSV3drs312262778
GWAS Ctlgrs312262778
Max Magnitude0
ClinVar
Risk rs312262778(C;C)
Alt rs312262778(C;C)
Reference rs312262778(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.44865019C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034243.2,


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