Rs1042917

From SNPedia

Venter snp
Source	plos
Gene	COL6A2
allele	A
frequency	0.426
sift	TOLERATED
HuRef	1103643135584
Disease Association	Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) (MIM:254090); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.