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rs312262738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262738(-;-)
Make rs312262738(-;T)
Make rs312262738(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44626411
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262738
ebirs312262738
HLIrs312262738
Exacrs312262738
Varsomers312262738
Maprs312262738
PheGenIrs312262738
hapmaprs312262738
1000 genomesrs312262738
hgdprs312262738
ensemblrs312262738
gopubmedrs312262738
geneviewrs312262738
scholarrs312262738
googlers312262738
pharmgkbrs312262738
gwascentralrs312262738
openSNPrs312262738
23andMers312262738
23andMe allrs312262738
SNP Nexus

SNPshotrs312262738
SNPdbers312262738
MSV3drs312262738
GWAS Ctlgrs312262738
Max Magnitude0
ClinVar
Risk rs312262738(T;T)
Alt rs312262738(T;T)
Reference rs312262738(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44918610dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034187.3,


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