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rs312262780

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262780(A;G)
Make rs312262780(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44570521
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262780
ebirs312262780
HLIrs312262780
Exacrs312262780
Varsomers312262780
Maprs312262780
PheGenIrs312262780
hapmaprs312262780
1000 genomesrs312262780
hgdprs312262780
ensemblrs312262780
gopubmedrs312262780
geneviewrs312262780
scholarrs312262780
googlers312262780
pharmgkbrs312262780
gwascentralrs312262780
openSNPrs312262780
23andMers312262780
23andMe allrs312262780
SNP Nexus

SNPshotrs312262780
SNPdbers312262780
MSV3drs312262780
GWAS Ctlgrs312262780
Max Magnitude0
ClinVar
Risk rs312262780(G;G)
Alt rs312262780(G;G)
Reference rs312262780(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.44862719T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034246.2,


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