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rs312262739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262739(G;G)
Make rs312262739(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44626377
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262739
ebirs312262739
HLIrs312262739
Exacrs312262739
Varsomers312262739
Maprs312262739
PheGenIrs312262739
hapmaprs312262739
1000 genomesrs312262739
hgdprs312262739
ensemblrs312262739
gopubmedrs312262739
geneviewrs312262739
scholarrs312262739
googlers312262739
pharmgkbrs312262739
gwascentralrs312262739
openSNPrs312262739
23andMers312262739
23andMe allrs312262739
SNP Nexus

SNPshotrs312262739
SNPdbers312262739
MSV3drs312262739
GWAS Ctlgrs312262739
Max Magnitude0
ClinVar
Risk rs312262739(G;G)
Alt rs312262739(G;G)
Reference rs312262739(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5
Reversed 1
HGVS NC_000015.9:g.44918575A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000034188.3, RCV000192703.2,


[PMID 17322883] Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.