Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR

dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908011
rs121908011
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR

dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR

dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
G 0.700 CausalMutation CLINVAR

dbSNP: rs61753180
rs61753180
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR

dbSNP: rs61753256
rs61753256
TYR ; LOC107984363
T 0.700 CausalMutation CLINVAR

dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR

dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR

dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
T 0.700 CausalMutation CLINVAR

dbSNP: rs62645916
rs62645916
TYR ; LOC107984363
T 0.700 CausalMutation CLINVAR

dbSNP: rs63159160
rs63159160
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
0.010 GeneticVariation BEFREE In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR). 9158138

1997
dbSNP: rs1376096651
rs1376096651
MITF
0.010 GeneticVariation BEFREE In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR). 9158138

1997