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rs312262791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGTA;AGTA) 0 common in clinvar
Make rs312262791(-;-)
Make rs312262791(-;AGTA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564540
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262791
ebirs312262791
HLIrs312262791
Exacrs312262791
Varsomers312262791
Maprs312262791
PheGenIrs312262791
hapmaprs312262791
1000 genomesrs312262791
hgdprs312262791
ensemblrs312262791
gopubmedrs312262791
geneviewrs312262791
scholarrs312262791
googlers312262791
pharmgkbrs312262791
gwascentralrs312262791
openSNPrs312262791
23andMers312262791
23andMe allrs312262791
SNP Nexus

SNPshotrs312262791
SNPdbers312262791
MSV3drs312262791
GWAS Ctlgrs312262791
Max Magnitude0
ClinVar
Risk rs312262791(;)
Alt rs312262791(;)
Reference rs312262791(AGTA;AGTA)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44856738_44856741delTACT
CLNSRC ClinVar GeneReviews
CLNACC RCV000034263.2,


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