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rs200793464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200793464(A;A)
Make rs200793464(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44574934
GeneSPG11
is asnp
is mentioned by
dbSNPrs200793464
ebirs200793464
HLIrs200793464
Exacrs200793464
Varsomers200793464
Maprs200793464
PheGenIrs200793464
hapmaprs200793464
1000 genomesrs200793464
hgdprs200793464
ensemblrs200793464
gopubmedrs200793464
geneviewrs200793464
scholarrs200793464
googlers200793464
pharmgkbrs200793464
gwascentralrs200793464
openSNPrs200793464
23andMers200793464
23andMe allrs200793464
SNP Nexus

SNPshotrs200793464
SNPdbers200793464
MSV3drs200793464
GWAS Ctlgrs200793464
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs200793464(A;A)
Alt rs200793464(A;A)
Reference rs200793464(G;G)
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 0
HGVS NC_000015.9:g.44867132G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034234.3, RCV000194146.2,


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