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rs312262786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs312262786(-;-)
Make rs312262786(-;CT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44565954
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262786
ebirs312262786
HLIrs312262786
Exacrs312262786
Varsomers312262786
Maprs312262786
PheGenIrs312262786
hapmaprs312262786
1000 genomesrs312262786
hgdprs312262786
ensemblrs312262786
gopubmedrs312262786
geneviewrs312262786
scholarrs312262786
googlers312262786
pharmgkbrs312262786
gwascentralrs312262786
openSNPrs312262786
23andMers312262786
23andMe allrs312262786
SNP Nexus

SNPshotrs312262786
SNPdbers312262786
MSV3drs312262786
GWAS Ctlgrs312262786
Max Magnitude0
ClinVar
Risk rs312262786(;)
Alt rs312262786(;)
Reference rs312262786(CT;CT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44858152_44858153delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034255.2,


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