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rs312262718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs312262718(G;G)
Make rs312262718(G;TT)
ReferenceGRCh38 38.1/141
Chromosome15
Position44659091
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262718
ebirs312262718
HLIrs312262718
Exacrs312262718
Varsomers312262718
Maprs312262718
PheGenIrs312262718
hapmaprs312262718
1000 genomesrs312262718
hgdprs312262718
ensemblrs312262718
gopubmedrs312262718
geneviewrs312262718
scholarrs312262718
googlers312262718
pharmgkbrs312262718
gwascentralrs312262718
openSNPrs312262718
23andMers312262718
23andMe allrs312262718
SNP Nexus

SNPshotrs312262718
SNPdbers312262718
MSV3drs312262718
GWAS Ctlgrs312262718
Max Magnitude0
ClinVar
Risk rs312262718(G;G)
Alt rs312262718(G;G)
Reference rs312262718(TT;TT)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44951289_44951290delAAinsC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034247.2,


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