Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894867
rs104894867
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894868
rs104894868
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894869
rs104894869
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894870
rs104894870
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894871
rs104894871
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894872
rs104894872
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894875
rs104894875
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894877
rs104894877
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894879
rs104894879
C 0.800 CausalMutation CLINVAR

dbSNP: rs104894880
rs104894880
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894883
rs104894883
A 0.800 CausalMutation CLINVAR

dbSNP: rs104894873
rs104894873
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894882
rs104894882
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518793
rs1057518793
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1369490553
rs1369490553
0.700 GeneticVariation UNIPROT

dbSNP: rs137852221
rs137852221
T 0.700 CausalMutation CLINVAR

dbSNP: rs28933685
rs28933685
C 0.700 CausalMutation CLINVAR

dbSNP: rs727504031
rs727504031
A 0.700 CausalMutation CLINVAR

dbSNP: rs80358284
rs80358284
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853243
rs878853243
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894867
rs104894867
0.800 GeneticVariation UNIPROT Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1303264

1992

dbSNP: rs104894867
rs104894867
0.800 GeneticVariation UNIPROT Mutations in the candidate gene for Norrie disease. 1307245

1992

dbSNP: rs104894868
rs104894868
0.800 GeneticVariation UNIPROT Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1303264

1992

dbSNP: rs104894868
rs104894868
0.800 GeneticVariation UNIPROT Mutations in the candidate gene for Norrie disease. 1307245

1992

dbSNP: rs104894869
rs104894869
0.800 GeneticVariation UNIPROT Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1303264

1992