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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs868047715	KDR		4	55089696	missense variant	G/A	snv			3
rs876659253	BRCA1	1.000	17	43094296	frameshift variant	ACAT/TG	delins			3
rs878853824	MSH2		2	47412558	stop gained	C/T	snv			3
rs969139366	PDGFRA		4	54277974	missense variant	T/C	snv		3.5E-05	3
rs1010898370	IDH1	1.000	2	208243469	missense variant	T/C;G	snv	8.0E-06		2
rs1057519761	KIT		4	54733175	missense variant	T/G	snv			2
rs1057519827	ESR1		6	152011697	missense variant	G/C	snv			2
rs1057519836	CTNNB1		3	41224630	missense variant	A/C;G;T	snv			2
rs10788160			10	121274035	intergenic variant	G/A	snv		0.19	2
rs11235127	LOC107984361	1.000	11	87377502	intergenic variant	G/A	snv		0.25	2
rs12004589	RXRA	1.000	9	134398879	intron variant	G/A;T	snv			2
rs121913265	PDGFRA		4	54285925	missense variant	G/T	snv			2
rs121913390	CSF1R		5	150073481	stop gained	A/G;T	snv			2
rs121913393	CSF1R		5	150054083	missense variant	A/G	snv			2
rs1219568637	EGFR		7	55143404	missense variant	G/A	snv		7.0E-06	2
rs1288422703	APC		5	112767386	missense variant	G/A	snv	4.0E-06		2
rs1308088661	ERBB2		17	39727880	missense variant	G/A	snv	4.0E-06		2
rs137853090	GALNT3	1.000	2	165761928	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		2
rs137853091	GALNT3	1.000	2	165758862	missense variant	G/T	snv	4.0E-06		2
rs140461341	VEGFA		6	43782078	missense variant	G/A	snv	3.6E-05	4.2E-05	2
rs1440200916	PDGFRA		4	54258803	missense variant	G/C;T	snv			2
rs1457127715	ERBB2		17	39715810	missense variant	G/A;C	snv	4.0E-06		2
rs146462069	IGSF1		X	131278706	missense variant	T/C;G	snv	3.8E-05; 9.5E-03		2
rs1480444018	SAMD4B ; PAF1		19	39386149	missense variant	T/C	snv			2
rs1789693	SLCO2B1		11	75176120	intron variant	T/A;C	snv			2