Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1301400509
rs1301400509
PAGR1 ; PRRT2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.010 GeneticVariation BEFREE To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). 31746731

2020
dbSNP: rs1555502708
rs1555502708
PRRT2 ; LOC112268170
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567379819
rs1567379819
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
0.010 GeneticVariation BEFREE Previously reported p.R240X was found in one patient with PKD with migraine without aura. 23077017

2012
dbSNP: rs387907127
rs387907127
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
T 0.800 CausalMutation CLINVAR

dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. 27172900

2016
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 22120146

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761

2012
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361

2012
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. 25915028

2015
dbSNP: rs397514579
rs397514579
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515576
rs397515576
PRRT2 ; LOC112268170
AT 0.700 CausalMutation CLINVAR

dbSNP: rs5361
rs5361
SELE ; C1orf112
0.010 GeneticVariation BEFREE To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). 31746731

2020
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681

2011
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. 22782515

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. 24074546

2014
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 23768507

2014