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rs312262710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262710(G;T)
Make rs312262710(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660606
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262710
ebirs312262710
HLIrs312262710
Exacrs312262710
Varsomers312262710
Maprs312262710
PheGenIrs312262710
hapmaprs312262710
1000 genomesrs312262710
hgdprs312262710
ensemblrs312262710
gopubmedrs312262710
geneviewrs312262710
scholarrs312262710
googlers312262710
pharmgkbrs312262710
gwascentralrs312262710
openSNPrs312262710
23andMers312262710
23andMe allrs312262710
SNP Nexus

SNPshotrs312262710
SNPdbers312262710
MSV3drs312262710
GWAS Ctlgrs312262710
Max Magnitude0
ClinVar
Risk rs312262710(T;T)
Alt rs312262710(T;T)
Reference rs312262710(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44952804C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034196.2,


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