Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553433412
rs1553433412
0.800 GeneticVariation UNIPROT Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828

2017

dbSNP: rs1233885358
rs1233885358
C 0.800 CausalMutation CLINVAR

dbSNP: rs1233885358
rs1233885358
0.800 GeneticVariation UNIPROT

dbSNP: rs1553433412
rs1553433412
G 0.800 CausalMutation CLINVAR