rs118203946
This is a variant in the UBIAD1 gene that changes a glycine to an arginine.
▶ClinVar annotation
About UBIAD1
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]
View all UBIAD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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