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rs312262735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262735(-;-)
Make rs312262735(-;A)
Make rs312262735(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position44629286
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262735
ebirs312262735
HLIrs312262735
Exacrs312262735
Varsomers312262735
Maprs312262735
PheGenIrs312262735
hapmaprs312262735
1000 genomesrs312262735
hgdprs312262735
ensemblrs312262735
gopubmedrs312262735
geneviewrs312262735
scholarrs312262735
googlers312262735
pharmgkbrs312262735
gwascentralrs312262735
openSNPrs312262735
23andMers312262735
23andMe allrs312262735
SNP Nexus

SNPshotrs312262735
SNPdbers312262735
MSV3drs312262735
GWAS Ctlgrs312262735
Max Magnitude0
ClinVar
Risk rs312262735(A;A)
Alt rs312262735(A;A)
Reference rs312262735(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44921484_44921485insT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034183.2,


[PMID 18337587OA-icon.png] SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.