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rs312262774

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262774(C;T)
Make rs312262774(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574931
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262774
ebirs312262774
HLIrs312262774
Exacrs312262774
Varsomers312262774
Maprs312262774
PheGenIrs312262774
hapmaprs312262774
1000 genomesrs312262774
hgdprs312262774
ensemblrs312262774
gopubmedrs312262774
geneviewrs312262774
scholarrs312262774
googlers312262774
pharmgkbrs312262774
gwascentralrs312262774
openSNPrs312262774
23andMers312262774
23andMe allrs312262774
SNP Nexus

SNPshotrs312262774
SNPdbers312262774
MSV3drs312262774
GWAS Ctlgrs312262774
Max Magnitude0
ClinVar
Risk rs312262774(T;T)
Alt rs312262774(T;T)
Reference rs312262774(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44867129G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034235.2,


[PMID 18361476] Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.


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