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rs312262712

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs312262712(-;-)
Make rs312262712(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660515
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262712
ebirs312262712
HLIrs312262712
Exacrs312262712
Varsomers312262712
Maprs312262712
PheGenIrs312262712
hapmaprs312262712
1000 genomesrs312262712
hgdprs312262712
ensemblrs312262712
gopubmedrs312262712
geneviewrs312262712
scholarrs312262712
googlers312262712
pharmgkbrs312262712
gwascentralrs312262712
openSNPrs312262712
23andMers312262712
23andMe allrs312262712
SNP Nexus

SNPshotrs312262712
SNPdbers312262712
MSV3drs312262712
GWAS Ctlgrs312262712
Max Magnitude0
ClinVar
Risk rs312262712(;)
Alt rs312262712(;)
Reference rs312262712(T;T)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44952713delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034208.2,


[PMID 18663179] SPG11 compound mutations in spastic paraparesis with thin corpus callosum.