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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519836	CTNNB1	3	41224630	missense variant	A/C;G;T	snv			2
rs10788160		10	121274035	intergenic variant	G/A	snv		0.19	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
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
rs1801271	CSF1R	5	150054082	missense variant	T/A;C	snv			2
rs2155222		11	76642761	intergenic variant	G/A;T	snv			2
rs329007	RALBP1	18	9522608	intron variant	G/A	snv		0.79	2
rs34309	PIK3R1	5	68268555	intron variant	G/A	snv		0.29	2
rs369999291	APC	5	112767315	missense variant	G/A	snv			2
rs3792142	REV1	2	99440746	intron variant	C/A;T	snv			2
rs4771249	FLT1	13	28439277	intron variant	G/A;C	snv			2
rs587780076	TP53	17	7673743	missense variant	C/A;T	snv	8.0E-06; 8.0E-06		2
rs587782148	TP53	17	7676113	missense variant	C/T	snv			2
rs587782160	TP53	17	7675221	missense variant	T/A	snv			2
rs756581500	PDGFRA	4	54290319	missense variant	G/A	snv	8.0E-06	1.4E-05	2