Rs1135809

From SNPedia

Venter snp
Source	plos
Gene	TNXB
allele	G
frequency
sift	AFFECT FUNCTION
HuRef	1103652827646
Disease Association	Defects in TNXB are the cause of Ehlers-Danlos-like syndrome (MIM:606408). This clinically distinct form of Ehlers- Danlos syndrome is characterized by hyperextensible skin, hypermobile joints, and tissue fragility, but it lacks atrophic scars and delayed wound healing. Inheritance is autosomal recessive.