Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368387447
rs368387447
FTH1 ; BEST1 ; LOC107984334
0.710 GeneticVariation BEFREE We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype. 26333019

2016
dbSNP: rs368387447
rs368387447
FTH1 ; BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT