Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200844390
rs200844390
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013

dbSNP: rs376879175
rs376879175
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013

dbSNP: rs878855332
rs878855332
T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013

dbSNP: rs878855333
rs878855333
G 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013

dbSNP: rs121964994
rs121964994
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011

dbSNP: rs121964994
rs121964994
T 0.700 CausalMutation CLINVAR Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123

2003

dbSNP: rs1322951938
rs1322951938
C 0.700 GeneticVariation CLINVAR Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123

2003

dbSNP: rs1425211517
rs1425211517
T 0.700 CausalMutation CLINVAR

dbSNP: rs150001738
rs150001738
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564123602
rs1564123602
TGACA 0.700 CausalMutation CLINVAR