DisGeNET - a database of gene-disease associations

List of shared variants

Atrial Septal Defects, C0018817

Disease: Pulmonary Stenosis

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs1213930919	TTN-AS1 ; TTN	0.882	0.120	2	178577785	stop gained	G/A	snv			9
rs1555932766	USP9X	0.882	0.080	X	41210540	stop gained	C/T	snv			9
rs869025191	RIT1	0.827	0.160	1	155904739	missense variant	C/A;G;T	snv			9
rs104894073	GATA4	0.827	0.080	8	11750213	missense variant	G/A;C;T	snv			8
rs1557962794	RIT1	0.882	0.160	1	155910693	missense variant	T/G	snv			4