Have questions? Visit https://www.reddit.com/r/SNPedia

rs312262737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262737(A;A)
Make rs312262737(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position44626429
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262737
ebirs312262737
HLIrs312262737
Exacrs312262737
Varsomers312262737
Maprs312262737
PheGenIrs312262737
hapmaprs312262737
1000 genomesrs312262737
hgdprs312262737
ensemblrs312262737
gopubmedrs312262737
geneviewrs312262737
scholarrs312262737
googlers312262737
pharmgkbrs312262737
gwascentralrs312262737
openSNPrs312262737
23andMers312262737
23andMe allrs312262737
SNP Nexus

SNPshotrs312262737
SNPdbers312262737
MSV3drs312262737
GWAS Ctlgrs312262737
Max Magnitude0
ClinVar
Risk rs312262737(A,T;A,T)
Alt rs312262737(A,T;A,T)
Reference rs312262737(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.44918627G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034186.2,


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