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rs312262749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262749(G;T)
Make rs312262749(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position44620189
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262749
ebirs312262749
HLIrs312262749
Exacrs312262749
Varsomers312262749
Maprs312262749
PheGenIrs312262749
hapmaprs312262749
1000 genomesrs312262749
hgdprs312262749
ensemblrs312262749
gopubmedrs312262749
geneviewrs312262749
scholarrs312262749
googlers312262749
pharmgkbrs312262749
gwascentralrs312262749
openSNPrs312262749
23andMers312262749
23andMe allrs312262749
SNP Nexus

SNPshotrs312262749
SNPdbers312262749
MSV3drs312262749
GWAS Ctlgrs312262749
Max Magnitude0
ClinVar
Risk rs312262749(T;T)
Alt rs312262749(T;T)
Reference rs312262749(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.44912387C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034200.2,


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