Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778361520
rs778361520
ADGRB2
0.710 GeneticVariation BEFREE A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. 28891236

2017
dbSNP: rs778361520
rs778361520
ADGRB2
A 0.710 GeneticVariation CLINVAR A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurological symptoms. 28891236

2017
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: rs1555454508
rs1555454508
SPG11
ATC 0.700 CausalMutation CLINVAR