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
rs138924661	DGKE ; TRIM25	0.807	0.120	17	56848773	stop gained	G/A	snv	9.1E-05	1.5E-04	9
rs281874674	COL4A5	0.827	0.280	X	108597479	missense variant	G/C;T	snv			8
rs1131692245	NPHS1	0.925	0.160	19	35844109	missense variant	C/T	snv			7
rs267602852	WT1	0.827	0.160	11	32417631	missense variant	G/A	snv			7
rs199840952	ZAP70	0.827	0.240	2	97732893	missense variant	C/T	snv	1.2E-05	7.0E-06	7
rs869025224	ZAP70	0.827	0.240	2	97734709	missense variant	G/C	snv		7.0E-06	7
rs569681869	COL4A4	0.925	0.040	2	227059468	missense variant	C/G	snv	7.2E-05	3.5E-05	6
rs869025495	NPHS2	0.851	0.080	1	179564715	missense variant	G/A	snv			6
rs1175052474	COL4A3 ; MFF-DT	1.000		2	227295295	inframe insertion	-/AGG	delins		7.0E-06	5
rs533297350	COL4A4	1.000	0.040	2	227010441	missense variant	C/T	snv	7.2E-05	3.5E-05	5
rs1556445736	COL4A5	0.925	0.200	X	108667167	synonymous variant	A/G	snv			5
rs530391015	INF2	0.882	0.080	14	104703445	stop gained	G/A;C;T	snv	4.0E-06		5
rs2075252	LRP2	0.925	0.160	2	169154475	stop gained	T/A;C	snv	0.76		5
rs1556411578	COL4A5			X	108595507	coding sequence variant	AAGGTGACA/-	delins			4
rs1428826948	APOL1	0.925	0.040	22	36265940	synonymous variant	T/G	snv	1.2E-05		3
rs1569534160	APOL1	0.925	0.040	22	36265812	missense variant	A/G	snv			3
rs74375025	CUBN	1.000	0.040	10	16905665	intron variant	G/A	snv		8.1E-02	3
rs1272948499	NPHS2	0.925	0.080	1	179575709	frameshift variant	C/-	delins		1.4E-05	3
rs779593707	CLCNKB			1	16049884	stop gained	-/AATA	delins	1.2E-05	7.0E-06	2
rs1556463583	COL4A5			X	108695350	frameshift variant	-/A	delins			2