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rs312262713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262713(-;-)
Make rs312262713(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660476
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262713
ebirs312262713
HLIrs312262713
Exacrs312262713
Varsomers312262713
Maprs312262713
PheGenIrs312262713
hapmaprs312262713
1000 genomesrs312262713
hgdprs312262713
ensemblrs312262713
gopubmedrs312262713
geneviewrs312262713
scholarrs312262713
googlers312262713
pharmgkbrs312262713
gwascentralrs312262713
openSNPrs312262713
23andMers312262713
23andMe allrs312262713
SNP Nexus

SNPshotrs312262713
SNPdbers312262713
MSV3drs312262713
GWAS Ctlgrs312262713
Max Magnitude0
ClinVar
Risk rs312262713(;)
Alt rs312262713(;)
Reference rs312262713(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.44952674delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000034213.2,


[PMID 18717728] Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).