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rs312262762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262762(C;T)
Make rs312262762(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44589312
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262762
ebirs312262762
HLIrs312262762
Exacrs312262762
Varsomers312262762
Maprs312262762
PheGenIrs312262762
hapmaprs312262762
1000 genomesrs312262762
hgdprs312262762
ensemblrs312262762
gopubmedrs312262762
geneviewrs312262762
scholarrs312262762
googlers312262762
pharmgkbrs312262762
gwascentralrs312262762
openSNPrs312262762
23andMers312262762
23andMe allrs312262762
SNP Nexus

SNPshotrs312262762
SNPdbers312262762
MSV3drs312262762
GWAS Ctlgrs312262762
Max Magnitude0
ClinVar
Risk rs312262762(T;T)
Alt rs312262762(T;T)
Reference rs312262762(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.44881510G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034220.2,


[PMID 20390432OA-icon.png] Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.