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
rs1553196096	CDC42		1	22086463	missense variant	G/A	snv			5
rs11789898	BRD3		9	134060541	intron variant	G/T	snv		0.14	3
rs724159945	ETV6	1.000	12	11885968	missense variant	C/A;T	snv			3
rs724159946	ETV6	1.000	12	11884541	missense variant	G/A	snv		7.0E-06	3
rs7694379		1.000	4	87265357	intron variant	G/A	snv		0.40	3
rs869320714	SLFN14	1.000	17	35557404	missense variant	A/T	snv			3
rs869320715	SLFN14	1.000	17	35557406	missense variant	T/A	snv			3
rs1064797085	FLI1	1.000	11	128810620	frameshift variant	ATTA/-	delins			2
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