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

rs312262787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs312262787(-;-)
Make rs312262787(-;GGA)
Make rs312262787(GGA;GGA)
ReferenceGRCh38 38.1/141
Chromosome15
Position44564700
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262787
ebirs312262787
HLIrs312262787
Exacrs312262787
Varsomers312262787
Maprs312262787
PheGenIrs312262787
hapmaprs312262787
1000 genomesrs312262787
hgdprs312262787
ensemblrs312262787
gopubmedrs312262787
geneviewrs312262787
scholarrs312262787
googlers312262787
pharmgkbrs312262787
gwascentralrs312262787
openSNPrs312262787
23andMers312262787
23andMe allrs312262787
SNP Nexus

SNPshotrs312262787
SNPdbers312262787
MSV3drs312262787
GWAS Ctlgrs312262787
Max Magnitude0
ClinVar
Risk rs312262787(GGA;GGA)
Alt rs312262787(GGA;GGA)
Reference rs312262787(;)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44856898_44856899insTCC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034256.2,


[PMID 19196735] Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.