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

rs312262772

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262772(C;G)
Make rs312262772(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44575038
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262772
ebirs312262772
HLIrs312262772
Exacrs312262772
Varsomers312262772
Maprs312262772
PheGenIrs312262772
hapmaprs312262772
1000 genomesrs312262772
hgdprs312262772
ensemblrs312262772
gopubmedrs312262772
geneviewrs312262772
scholarrs312262772
googlers312262772
pharmgkbrs312262772
gwascentralrs312262772
openSNPrs312262772
23andMers312262772
23andMe allrs312262772
SNP Nexus

SNPshotrs312262772
SNPdbers312262772
MSV3drs312262772
GWAS Ctlgrs312262772
Max Magnitude0
ClinVar
Risk rs312262772(G;G)
Alt rs312262772(G;G)
Reference rs312262772(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.44867236G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034231.2,


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