rs113372122, CRIM1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pterygium of eye
CUI: C4520843
Disease: Pterygium of eye
0.010 GeneticVariation BEFREE In this study, a Northern Irish family affected by pterygium but reporting little direct exposure to UV was identified carrying a missense variant in CRIM1 NM_016441.2: c.1235 A > C (H412P) through whole-exome sequencing and subsequent analysis. 30365943 2019
Pterygium
CUI: C0033999
Disease: Pterygium
0.010 GeneticVariation BEFREE In this study, a Northern Irish family affected by pterygium but reporting little direct exposure to UV was identified carrying a missense variant in CRIM1 NM_016441.2: c.1235 A > C (H412P) through whole-exome sequencing and subsequent analysis. 30365943 2019
Pterygium Of Conjunctiva And Cornea
CUI: C1867441
Disease: Pterygium Of Conjunctiva And Cornea
0.010 GeneticVariation BEFREE In this study, a Northern Irish family affected by pterygium but reporting little direct exposure to UV was identified carrying a missense variant in CRIM1 NM_016441.2: c.1235 A > C (H412P) through whole-exome sequencing and subsequent analysis. 30365943 2019