Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555532483
rs1555532483
0.800 GeneticVariation UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965

2017

dbSNP: rs1555532484
rs1555532484
0.800 GeneticVariation UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965

2017

dbSNP: rs1555532483
rs1555532483
G 0.800 CausalMutation CLINVAR

dbSNP: rs1555532484
rs1555532484
A 0.800 CausalMutation CLINVAR

dbSNP: rs748497469
rs748497469
G 0.800 CausalMutation CLINVAR

dbSNP: rs748497469
rs748497469
0.800 GeneticVariation UNIPROT

dbSNP: rs767427194
rs767427194
C 0.800 CausalMutation CLINVAR

dbSNP: rs767427194
rs767427194
0.800 GeneticVariation UNIPROT

dbSNP: rs1394499137
rs1394499137
A 0.700 CausalMutation CLINVAR

dbSNP: rs755568057
rs755568057
G 0.700 CausalMutation CLINVAR