Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909323
rs121909323
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

dbSNP: rs786200962
rs786200962
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

dbSNP: rs1057518988
rs1057518988
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518991
rs1057518991
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519002
rs1057519002
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519005
rs1057519005
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519010
rs1057519010
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519012
rs1057519012
TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1562927768
rs1562927768
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562931936
rs1562931936
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80359826
rs80359826
A 0.700 GeneticVariation CLINVAR

dbSNP: rs876661219
rs876661219
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041856
rs886041856
T 0.700 GeneticVariation CLINVAR

dbSNP: rs156429
rs156429
0.010 GeneticVariation BEFREE No differences were found in the genotype distributions and minor allele frequency of GPNMB rs156429 between PD patients and HCs, between SALS patients and HCs, between MSA patients and HCs, and between subgroups of PD, ALS and MSA patients with regard to clinical features such as sex, age of onset, presence or absence of cognitive abnormality, depression and anxiety. 27132081

2016