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rs312262769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262769(-;-)
Make rs312262769(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44583977
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262769
ebirs312262769
HLIrs312262769
Exacrs312262769
Varsomers312262769
Maprs312262769
PheGenIrs312262769
hapmaprs312262769
1000 genomesrs312262769
hgdprs312262769
ensemblrs312262769
gopubmedrs312262769
geneviewrs312262769
scholarrs312262769
googlers312262769
pharmgkbrs312262769
gwascentralrs312262769
openSNPrs312262769
23andMers312262769
23andMe allrs312262769
SNP Nexus

SNPshotrs312262769
SNPdbers312262769
MSV3drs312262769
GWAS Ctlgrs312262769
Max Magnitude0
ClinVar
Risk rs312262769(;)
Alt rs312262769(;)
Reference rs312262769(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876175delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034227.2,


[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.