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rs312262711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262711(G;T)
Make rs312262711(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660525
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262711
ebirs312262711
HLIrs312262711
Exacrs312262711
Varsomers312262711
Maprs312262711
PheGenIrs312262711
hapmaprs312262711
1000 genomesrs312262711
hgdprs312262711
ensemblrs312262711
gopubmedrs312262711
geneviewrs312262711
scholarrs312262711
googlers312262711
pharmgkbrs312262711
gwascentralrs312262711
openSNPrs312262711
23andMers312262711
23andMe allrs312262711
SNP Nexus

SNPshotrs312262711
SNPdbers312262711
MSV3drs312262711
GWAS Ctlgrs312262711
Max Magnitude0
ClinVar
Risk rs312262711(T;T)
Alt rs312262711(T;T)
Reference rs312262711(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.44952723C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034207.2,


[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.