Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778361520
rs778361520
ADGRB2
A 0.700 GeneticVariation CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
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: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
A 0.700 GeneticVariation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555454508
rs1555454508
SPG11
ATC 0.700 CausalMutation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs370717845
rs370717845
HGSNAT
A 0.700 CausalMutation CLINVAR

dbSNP: rs529855742
rs529855742
SGSH
A 0.700 CausalMutation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044849
rs797044849
GRIN2B
G 0.700 GeneticVariation CLINVAR