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rs312262790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262790(-;-)
Make rs312262790(-;T)
Make rs312262790(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564596
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262790
ebirs312262790
HLIrs312262790
Exacrs312262790
Varsomers312262790
Maprs312262790
PheGenIrs312262790
hapmaprs312262790
1000 genomesrs312262790
hgdprs312262790
ensemblrs312262790
gopubmedrs312262790
geneviewrs312262790
scholarrs312262790
googlers312262790
pharmgkbrs312262790
gwascentralrs312262790
openSNPrs312262790
23andMers312262790
23andMe allrs312262790
SNP Nexus

SNPshotrs312262790
SNPdbers312262790
MSV3drs312262790
GWAS Ctlgrs312262790
Max Magnitude0
ClinVar
Risk rs312262790(T;T)
Alt rs312262790(T;T)
Reference rs312262790(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44856795dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034262.2,


[PMID 18835492] Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.