UBIAD1 Chromosome 1
UbiA prenyltransferase domain containing 1
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What This Gene Does
This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
Associated Conditions (1)
Schnyder crystalline corneal dystrophy
Key Variants
RS201583978
Conflicting classifications of pathogenicity
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS761963387
Conflicting classifications of pathogenicity
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS371811409
Likely pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS397514669
Likely pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203945
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203946
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203947
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203948
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203949
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203950
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203951
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
RS118203952
Pathogenic
Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201583978 | Health Risk | Conflicting classifications of pathogenicity | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS761963387 | Health Risk | Conflicting classifications of pathogenicity | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS371811409 | Health Risk | Likely pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS397514669 | Health Risk | Likely pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203945 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203946 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203947 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203948 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203949 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203950 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203951 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203952 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |
| RS118203953 | Health Risk | Pathogenic | Schnyder crystalline corneal dystrophy, Schnyder crystalline corneal dystrophy |