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	Num. diseases
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	45
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	39
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06	37
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv		37
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	29
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05	25
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv		22
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv		20
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06	18
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv		16
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv		16
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv		14
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv		13
rs398124146	CREBBP	0.742	0.360	16	3738617	missense variant	G/A;C	snv		12
rs1057519884	CREBBP	0.752	0.240	16	3738616	missense variant	C/A;T	snv		11
rs1057519929	PIK3CA	0.776	0.320	3	179199066	missense variant	G/A	snv		9
rs869320694	FGFR1	0.742	0.520	8	38414790	missense variant	T/C	snv		7
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06	6
rs1057519919	MYCNOS ; MYCN	0.851	0.160	2	15942195	missense variant	C/T	snv		5