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rs312262788

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262788(-;-)
Make rs312262788(-;T)
Make rs312262788(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564668
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262788
ebirs312262788
HLIrs312262788
Exacrs312262788
Varsomers312262788
Maprs312262788
PheGenIrs312262788
hapmaprs312262788
1000 genomesrs312262788
hgdprs312262788
ensemblrs312262788
gopubmedrs312262788
geneviewrs312262788
scholarrs312262788
googlers312262788
pharmgkbrs312262788
gwascentralrs312262788
openSNPrs312262788
23andMers312262788
23andMe allrs312262788
SNP Nexus

SNPshotrs312262788
SNPdbers312262788
MSV3drs312262788
GWAS Ctlgrs312262788
Max Magnitude0
ClinVar
Risk rs312262788(T;T)
Alt rs312262788(T;T)
Reference rs312262788(;)
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.44856867dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000034259.3, RCV000195138.2,


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