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rs312262767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs312262767(C;T)
Make rs312262767(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44584210
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262767
ebirs312262767
HLIrs312262767
Exacrs312262767
Varsomers312262767
Maprs312262767
PheGenIrs312262767
hapmaprs312262767
1000 genomesrs312262767
hgdprs312262767
ensemblrs312262767
gopubmedrs312262767
geneviewrs312262767
scholarrs312262767
googlers312262767
pharmgkbrs312262767
gwascentralrs312262767
openSNPrs312262767
23andMers312262767
23andMe allrs312262767
SNP Nexus

SNPshotrs312262767
SNPdbers312262767
MSV3drs312262767
GWAS Ctlgrs312262767
Max Magnitude0
ClinVar
Risk rs312262767(T;T)
Alt rs312262767(T;T)
Reference rs312262767(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.44876408G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034225.2,


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