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rs312262709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs312262709(A;A)
Make rs312262709(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44660607
GeneSPG11
is asnp
is mentioned by
dbSNPrs312262709
ebirs312262709
HLIrs312262709
Exacrs312262709
Varsomers312262709
Maprs312262709
PheGenIrs312262709
hapmaprs312262709
1000 genomesrs312262709
hgdprs312262709
ensemblrs312262709
gopubmedrs312262709
geneviewrs312262709
scholarrs312262709
googlers312262709
pharmgkbrs312262709
gwascentralrs312262709
openSNPrs312262709
23andMers312262709
23andMe allrs312262709
SNP Nexus

SNPshotrs312262709
SNPdbers312262709
MSV3drs312262709
GWAS Ctlgrs312262709
Max Magnitude0
ClinVar
Risk rs312262709(A;A)
Alt rs312262709(A;A)
Reference rs312262709(G;G)
Significance Pathogenic
Disease Spastic paraplegia 11 Amyotrophic lateral sclerosis type 5
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive Amyotrophic lateral sclerosis type 5
Reversed 1
HGVS NC_000015.9:g.44952805C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034195.2, RCV000194703.2,


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


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