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rs312262771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262771(-;-)
Make rs312262771(-;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position44583882
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262771
ebirs312262771
HLIrs312262771
Exacrs312262771
Varsomers312262771
Maprs312262771
PheGenIrs312262771
hapmaprs312262771
1000 genomesrs312262771
hgdprs312262771
ensemblrs312262771
gopubmedrs312262771
geneviewrs312262771
scholarrs312262771
googlers312262771
pharmgkbrs312262771
gwascentralrs312262771
openSNPrs312262771
23andMers312262771
23andMe allrs312262771
SNP Nexus

SNPshotrs312262771
SNPdbers312262771
MSV3drs312262771
GWAS Ctlgrs312262771
Max Magnitude0
ClinVar
Risk rs312262771(;)
Alt rs312262771(;)
Reference rs312262771(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44876080delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000034229.2,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.