Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912832
rs121912832
COL7A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Dystrophic epidermolysis bullosa: a review. 26064063

2015
dbSNP: rs121912832
rs121912832
COL7A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Overview of epidermolysis bullosa. 20507384

2010
dbSNP: rs121912832
rs121912832
COL7A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. 19026465

2009
dbSNP: rs121912832
rs121912832
COL7A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Type VII collagen is a major structural component of anchoring fibrils. 3771648

1986