Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 28642162

2017
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722

2011
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823

2010
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		C 0.700 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010