DisGeNET - a database of gene-disease associations

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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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs121913630	MYH7	0.851	0.080	14	23425814	missense variant	G/A;C	snv	1.2E-05		7
rs150821281	PKP2	0.827	0.080	12	32878461	missense variant	G/A	snv	2.3E-03	2.5E-03	7
rs45586240	TNNT2	0.827	0.080	1	201361989	missense variant	G/A;T	snv	4.0E-06		7
rs199476301	TPM1	0.851	0.040	15	63042874	missense variant	G/A;T	snv	4.0E-06		6
rs74315379	TNNT2	0.827	0.080	1	201364336	missense variant	G/A;T	snv	1.2E-04		6
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5
rs104894501	TPM1	0.851	0.040	15	63044030	stop gained	G/A;C;T	snv	4.0E-06		5
rs121917776	VCL	0.882	0.040	10	74112086	missense variant	C/T	snv	9.9E-05	7.0E-06	5
rs606231324	MYH7	0.851	0.080	14	23428505	missense variant	C/G;T	snv			5
rs61444459	LMNA	0.851	0.160	1	156137667	missense variant	G/A;C	snv			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs199476314	TPM1	0.882	0.040	15	63060930	missense variant	T/G	snv			4
rs758264780	TPM1	0.882	0.040	15	63044029	frameshift variant	G/-	delins			4
rs199476320	TPM1	0.925	0.040	15	63064121	missense variant	C/G;T	snv			3
rs727502886	ACTN2	0.925	0.040	1	236719007	missense variant	G/A	snv			3
rs397515947	MYBPC3	1.000	0.040	11	47339376	frameshift variant	G/-	delins			2