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
rs1553196096	CDC42			1	22086463	missense variant	G/A	snv			5
rs11789898	BRD3			9	134060541	intron variant	G/T	snv		0.14	3
rs17824620	RPH3A			12	112663189	intron variant	C/A	snv		0.26	2
rs28362731	AQP1			7	30922175	missense variant	G/A	snv	3.1E-02	2.6E-02	2
rs10510050				10	118867050	intron variant	A/G	snv		0.52	1
rs11598702	NT5C2			10	103138228	intron variant	T/C;G	snv			1
rs1297235855	GP9			3	129062206	missense variant	C/T	snv			1
rs1523130	NR1I2			3	119780660	5 prime UTR variant	T/C	snv		0.47	1
rs1569008655	RUNX1			21	34799310	stop gained	G/A	snv			1
rs1569061762	RUNX1			21	34859476	missense variant	C/T	snv			1
rs2290280	CCNH ; LOC105379066			5	87412904	5 prime UTR variant	C/A;T	snv			1
rs3786136	RPA1			17	1869979	intron variant	G/A	snv		0.24	1
rs4694362	DCK			4	71028147	intron variant	C/T	snv		0.49	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
rs587778516	MPL			1	43338592	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs760797899	THPO			3	184375917	missense variant	G/A	snv	8.0E-06		1
rs766715154	ABCC4			13	95206759	missense variant	T/C;G	snv	4.0E-06		1
rs779449782	VWF			12	6057915	missense variant	G/A;C	snv	1.6E-05	1.4E-05	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
rs9574547				13	80057282	intron variant	C/A	snv		0.17	1
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174