Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262717
rs312262717
SPG11
C 0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009
dbSNP: rs143003434
rs143003434
SPAST
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555454508
rs1555454508
SPG11
ATC 0.700 CausalMutation CLINVAR

dbSNP: rs312262720
rs312262720
SPG11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR