RS28936415 PMM2

Health Risk Chr 16:8811153

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What This Variant Does

"rs28936415, also known as c.422G&gt

Associated Conditions

PMM2-congenital disorder of glycosylation

Inborn genetic diseases

Cerebellar ataxia

6 conditions

Congenital disorder of glycosylation

Congenital cerebellar hypoplasia

Muscular dystrophy

Diabetes mellitus

Congenital disorder of glycosylation type I

PMM2-related disorder

Focal segmental glomerulosclerosis

PMM2-congenital disorder of glycosylation

Inborn genetic diseases

Cerebellar ataxia

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
PMM2 protein levels	A	OR: 0.6	1E-48	PubMed
Free testosterone levels	—	OR: 0.12	5E-8	PubMed

Other Variants in PMM2