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

rs312262732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262732(C;G)
Make rs312262732(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44633561
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262732
ebirs312262732
HLIrs312262732
Exacrs312262732
Varsomers312262732
Maprs312262732
PheGenIrs312262732
hapmaprs312262732
1000 genomesrs312262732
hgdprs312262732
ensemblrs312262732
gopubmedrs312262732
geneviewrs312262732
scholarrs312262732
googlers312262732
pharmgkbrs312262732
gwascentralrs312262732
openSNPrs312262732
23andMers312262732
23andMe allrs312262732
SNP Nexus

SNPshotrs312262732
SNPdbers312262732
MSV3drs312262732
GWAS Ctlgrs312262732
Max Magnitude0
ClinVar
Risk rs312262732(G;G)
Alt rs312262732(G;G)
Reference rs312262732(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.44925759G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034180.2,


[PMID 19105190] Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.