Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894424
rs104894424
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894430
rs104894430
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894431
rs104894431
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908533
rs121908533
G 0.800 CausalMutation CLINVAR

dbSNP: rs121908534
rs121908534
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908535
rs121908535
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908535
rs121908535
T 0.800 GeneticVariation CLINVAR

dbSNP: rs104894429
rs104894429
T 0.730 CausalMutation CLINVAR

dbSNP: rs121908536
rs121908536
G 0.710 CausalMutation CLINVAR

dbSNP: rs202247807
rs202247807
T 0.710 CausalMutation CLINVAR

dbSNP: rs1064793683
rs1064793683
0.700 GeneticVariation UNIPROT

dbSNP: rs141028076
rs141028076
G 0.700 CausalMutation CLINVAR

dbSNP: rs1566123619
rs1566123619
A 0.700 CausalMutation CLINVAR

dbSNP: rs199894905
rs199894905
T 0.700 CausalMutation CLINVAR

dbSNP: rs202247804
rs202247804
A 0.700 CausalMutation CLINVAR

dbSNP: rs202247805
rs202247805
A 0.700 CausalMutation CLINVAR

dbSNP: rs202247806
rs202247806
A 0.700 CausalMutation CLINVAR

dbSNP: rs202247808
rs202247808
A 0.700 CausalMutation CLINVAR

dbSNP: rs202247809
rs202247809
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894424
rs104894424
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002

dbSNP: rs104894430
rs104894430
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002

dbSNP: rs104894431
rs104894431
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002

dbSNP: rs121908533
rs121908533
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002

dbSNP: rs121908534
rs121908534
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002

dbSNP: rs121908535
rs121908535
0.800 GeneticVariation UNIPROT A novel mutation, P126R, in a Japanese patient with HHH syndrome. 11814739

2002