Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112550005
rs112550005
FBN1
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs121918327
rs121918327
BBS12
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918461
rs121918461
PTPN11
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397515789
rs397515789
FBN1
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs727503057
rs727503057
FBN1
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs775394591
rs775394591
FREM2
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312685
rs869312685
ITPR1
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312741
rs869312741
SMG9
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016
dbSNP: rs869312742
rs869312742
SMG9
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016
dbSNP: rs886039902
rs886039902
ANKRD11
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		C 0.700 CausalMutation CLINVAR