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rs312262726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs312262726(A;G)
Make rs312262726(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44649013
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262726
ebirs312262726
HLIrs312262726
Exacrs312262726
Varsomers312262726
Maprs312262726
PheGenIrs312262726
hapmaprs312262726
1000 genomesrs312262726
hgdprs312262726
ensemblrs312262726
gopubmedrs312262726
geneviewrs312262726
scholarrs312262726
googlers312262726
pharmgkbrs312262726
gwascentralrs312262726
openSNPrs312262726
23andMers312262726
23andMe allrs312262726
SNP Nexus

SNPshotrs312262726
SNPdbers312262726
MSV3drs312262726
GWAS Ctlgrs312262726
Max Magnitude0
ClinVar
Risk rs312262726(G;G)
Alt rs312262726(G;G)
Reference rs312262726(A;A)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44941211T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034173.2,


[PMID 18067136] Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.