Familial Aortopathy

Other 42 variants 15 genes

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Associated Genes (15)

SLC2A10 FBN1 SLC12A3 SMAD3 MYH11 COL3A1 EFEMP2 TGFB2 COL5A2 BGN MYLK F8 SMAD4 ACTA2 TGFBR1

Associated Variants (42)

RSID	Gene	Risk Allele	Odds Ratio	Evidence
RS201268555	SLC2A10	—	—	strong
RS376346077	SLC2A10	—	—	strong
RS1555398152	FBN1	—	—	strong
RS759377924	SLC12A3	—	—	strong
RS1566999458	SMAD3	—	—	strong
RS1055960218	MYH11	—	—	strong
RS1559053022	COL3A1	—	—	strong
RS772827388	COL3A1	—	—	strong
RS1688586251	COL3A1	—	—	strong
RS761656636	EFEMP2	—	—	strong
RS1660010402	TGFB2	—	—	strong
RS144890303	COL5A2	—	—	strong
RS754120063	SLC2A10	—	—	strong
RS2469117990	COL3A1	—	—	strong
RS2124232156	BGN	—	—	strong
RS771702107	SLC2A10	—	—	strong
RS2469156496	COL3A1	—	—	strong
RS1430509325	COL3A1	—	—	strong
RS2505661178	FBN1	—	—	strong
RS2474303339	MYLK	—	—	strong
RS2140301211	SMAD3	—	—	strong
RS794728060	COL3A1	—	—	strong
RS137852428	F8	—	—	strong
RS281875322	SMAD4	—	—	strong
RS193922176	COL3A1	—	—	strong
RS112990531	MYH11	—	—	strong
RS397515769	FBN1	—	—	strong
RS112901682	ACTA2	—	—	strong
RS587779445	COL3A1	—	—	strong
RS587779704	COL3A1	—	—	strong
RS767864243	SLC2A10	—	—	strong
RS756457861	SLC2A10	—	—	strong
RS80358230	SLC2A10	—	—	strong
RS794728021	ACTA2	—	—	strong
RS794728176	FBN1	—	—	strong
RS863223792	TGFB2	—	—	strong
RS760079636	TGFBR1	—	—	strong
RS863223736	SMAD3	—	—	strong
RS886039303	ACTA2	—	—	strong
RS1057521106	COL3A1	—	—	strong
RS1057521930	COL3A1	—	—	strong
RS1060502046	TGFBR1	—	—	strong