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rs312262715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262715(C;C)
Make rs312262715(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660431
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262715
ebirs312262715
HLIrs312262715
Exacrs312262715
Varsomers312262715
Maprs312262715
PheGenIrs312262715
hapmaprs312262715
1000 genomesrs312262715
hgdprs312262715
ensemblrs312262715
gopubmedrs312262715
geneviewrs312262715
scholarrs312262715
googlers312262715
pharmgkbrs312262715
gwascentralrs312262715
openSNPrs312262715
23andMers312262715
23andMe allrs312262715
SNP Nexus

SNPshotrs312262715
SNPdbers312262715
MSV3drs312262715
GWAS Ctlgrs312262715
Max Magnitude0
ClinVar
Risk rs312262715(C;C)
Alt rs312262715(C;C)
Reference rs312262715(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.44952629C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001173.4,


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