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
rs10510050				10	118867050	intron variant	A/G	snv		0.52	1
rs9574547				13	80057282	intron variant	C/A	snv		0.17	1
rs766715154	ABCC4			13	95206759	missense variant	T/C;G	snv	4.0E-06		1
rs2290280	CCNH ; LOC105379066			5	87412904	5 prime UTR variant	C/A;T	snv			1
rs4694362	DCK			4	71028147	intron variant	C/T	snv		0.49	1
rs780517804	GALE			1	23798701	missense variant	G/A	snv	2.0E-05	2.1E-05	1
rs794727505	GNE ; CLTA			9	36246181	missense variant	A/G	snv	8.0E-06		1
rs1297235855	GP9			3	129062206	missense variant	C/T	snv			1
rs587778516	MPL			1	43338592	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs1523130	NR1I2			3	119780660	5 prime UTR variant	T/C	snv		0.47	1
rs11598702	NT5C2			10	103138228	intron variant	T/C;G	snv			1
rs3786136	RPA1			17	1869979	intron variant	G/A	snv		0.24	1
rs1569008655	RUNX1			21	34799310	stop gained	G/A	snv			1
rs1569061762	RUNX1			21	34859476	missense variant	C/T	snv			1
rs760797899	THPO			3	184375917	missense variant	G/A	snv	8.0E-06		1
rs5030437	TRAF6			11	36503205	intron variant	A/G	snv		0.78	1
rs5030470	TRAF6			11	36493896	intron variant	A/G	snv		0.12	1
rs779449782	VWF			12	6057915	missense variant	G/A;C	snv	1.6E-05	1.4E-05	1
rs160441		1.000	0.040	8	89644760	intron variant	T/C	snv		0.55	2
rs218916		1.000	0.040	8	89688709	intron variant	C/T	snv		0.67	2
rs1554800065	ANKRD26	1.000	0.120	10	27100445	5 prime UTR variant	G/C	snv			2
rs863223318	ANKRD26	1.000	0.120	10	27100460	5 prime UTR variant	C/T	snv			2
rs28362731	AQP1			7	30922175	missense variant	G/A	snv	3.1E-02	2.6E-02	2
rs121918552	CYCS	1.000	0.040	7	25123996	missense variant	C/T	snv			2
rs768288280	DPYD	1.000	0.080	1	97740403	missense variant	T/C	snv	4.0E-06		2