DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs876658468	TP53	0.689	0.440	17	7674954	missense variant	G/A;C;T	snv			22
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			16
rs779707422	FGFR1	0.763	0.280	8	38417331	missense variant	G/A;T	snv	4.0E-06		7
rs1057519902	H3-3A	0.742	0.160	1	226064451	missense variant	G/C	snv			4
rs139236063	EGFR	0.925	0.080	7	55165350	missense variant	G/C;T	snv			3
rs1057519904	H3C11	0.742	0.080	6	27872233	missense variant	T/A	snv			2
rs1057519906	IDH2	0.882	0.120	15	90088607	missense variant	T/A;C	snv			5
rs786201838	TP53	0.683	0.440	17	7674953	missense variant	T/A;C;G	snv			23
rs148924904	TP53	0.724	0.360	17	7675124	missense variant	T/C	snv		7.0E-06	17
rs1057519898	FGFR1	0.851	0.120	8	38417333	missense variant	T/C	snv			5
rs1057519899	FGFR1	0.851	0.120	8	38417879	missense variant	T/C	snv			5
rs1057519905	H3C11	0.925	0.080	6	27872234	missense variant	T/C	snv			2
rs863224846	ACVR1	0.882	0.160	2	157770386	missense variant	T/C;G	snv	4.0E-06		3
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057520003	TP53	0.695	0.320	17	7675996	missense variant	T/G	snv			20