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rs312262745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262745(A;G)
Make rs312262745(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44621771
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262745
ebirs312262745
HLIrs312262745
Exacrs312262745
Varsomers312262745
Maprs312262745
PheGenIrs312262745
hapmaprs312262745
1000 genomesrs312262745
hgdprs312262745
ensemblrs312262745
gopubmedrs312262745
geneviewrs312262745
scholarrs312262745
googlers312262745
pharmgkbrs312262745
gwascentralrs312262745
openSNPrs312262745
23andMers312262745
23andMe allrs312262745
SNP Nexus

SNPshotrs312262745
SNPdbers312262745
MSV3drs312262745
GWAS Ctlgrs312262745
Max Magnitude0
ClinVar
Risk rs312262745(G;G)
Alt rs312262745(G;G)
Reference rs312262745(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44913969T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034194.2,


[PMID 19087158] Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.