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rs312262750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262750(-;-)
Make rs312262750(-;G)
Make rs312262750(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44615558
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262750
ebirs312262750
HLIrs312262750
Exacrs312262750
Varsomers312262750
Maprs312262750
PheGenIrs312262750
hapmaprs312262750
1000 genomesrs312262750
hgdprs312262750
ensemblrs312262750
gopubmedrs312262750
geneviewrs312262750
scholarrs312262750
googlers312262750
pharmgkbrs312262750
gwascentralrs312262750
openSNPrs312262750
23andMers312262750
23andMe allrs312262750
SNP Nexus

SNPshotrs312262750
SNPdbers312262750
MSV3drs312262750
GWAS Ctlgrs312262750
Max Magnitude0
ClinVar
Risk rs312262750(G;G)
Alt rs312262750(G;G)
Reference rs312262750(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44907757dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034201.2,


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