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rs200079802

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200079802(C;G)
Make rs200079802(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position44563302
GeneEIF3J, SPG11
is asnp
is mentioned by
dbSNPrs200079802
ebirs200079802
HLIrs200079802
Exacrs200079802
Varsomers200079802
Maprs200079802
PheGenIrs200079802
hapmaprs200079802
1000 genomesrs200079802
hgdprs200079802
ensemblrs200079802
gopubmedrs200079802
geneviewrs200079802
scholarrs200079802
googlers200079802
pharmgkbrs200079802
gwascentralrs200079802
openSNPrs200079802
23andMers200079802
23andMe allrs200079802
SNP Nexus

SNPshotrs200079802
SNPdbers200079802
MSV3drs200079802
GWAS Ctlgrs200079802
Max Magnitude0
ClinVar
Risk rs200079802(G;G)
Alt rs200079802(G;G)
Reference rs200079802(C;C)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11 EIF3J
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 0
HGVS NC_000015.9:g.44855500C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001174.4,


[PMID 19194956] SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.