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rs312262721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262721(A;A)
Make rs312262721(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44657094
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262721
ebirs312262721
HLIrs312262721
Exacrs312262721
Varsomers312262721
Maprs312262721
PheGenIrs312262721
hapmaprs312262721
1000 genomesrs312262721
hgdprs312262721
ensemblrs312262721
gopubmedrs312262721
geneviewrs312262721
scholarrs312262721
googlers312262721
pharmgkbrs312262721
gwascentralrs312262721
openSNPrs312262721
23andMers312262721
23andMe allrs312262721
SNP Nexus

SNPshotrs312262721
SNPdbers312262721
MSV3drs312262721
GWAS Ctlgrs312262721
Max Magnitude0
ClinVar
Risk rs312262721(A;A)
Alt rs312262721(A;A)
Reference rs312262721(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.44949292C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034268.2,


[PMID 18079167] Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.