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rs312262734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs312262734(-;-)
Make rs312262734(-;AAGT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44633499
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262734
ebirs312262734
HLIrs312262734
Exacrs312262734
Varsomers312262734
Maprs312262734
PheGenIrs312262734
hapmaprs312262734
1000 genomesrs312262734
hgdprs312262734
ensemblrs312262734
gopubmedrs312262734
geneviewrs312262734
scholarrs312262734
googlers312262734
pharmgkbrs312262734
gwascentralrs312262734
openSNPrs312262734
23andMers312262734
23andMe allrs312262734
SNP Nexus

SNPshotrs312262734
SNPdbers312262734
MSV3drs312262734
GWAS Ctlgrs312262734
Max Magnitude0
ClinVar
Risk rs312262734(;)
Alt rs312262734(;)
Reference rs312262734(AAGT;AAGT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44925697_44925700delACTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034182.2,


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