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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs121909636	FGFR1	0.827	0.240	8	38414569	stop gained	G/A	snv			7
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs1060505029	TAF13	0.882	0.240	1	109066220	missense variant	A/T	snv			5
rs1060505030	TAF13	0.882	0.240	1	109075001	missense variant	A/G;T	snv			4
rs121909628	FGFR1	0.925	0.160	8	38414892	stop gained	G/A;C	snv			3
rs727505369	FGFR1	0.925	0.160	8	38424624	missense variant	T/C	snv			3
rs727505373	FGFR1	0.925	0.160	8	38429744	missense variant	T/C	snv			3
rs184758350	IL17RD	0.925		3	57110230	missense variant	T/G	snv	8.9E-04	6.6E-04	3
rs727505372	TAC3	0.925	0.040	12	57013359	missense variant	G/T	snv			3
rs727505374	ANOS1	1.000	0.040	X	8539744	stop gained	G/A	snv			2
rs727505370	FGFR1	1.000	0.040	8	38414840	missense variant	A/G	snv			2
rs727505371	FGFR1	1.000	0.040	8	38421840	frameshift variant	AG/-	delins	4.0E-06		2
rs727505367	UBA6-AS1 ; GNRHR	1.000	0.040	4	67753986	missense variant	A/C	snv		1.4E-05	2
rs727505368				12	37253847	intergenic variant	G/C;T	snv			1
rs200088377	IL17RD			3	57106133	missense variant	G/A	snv	1.6E-04	1.3E-04	1
rs727505366	IL17RD			3	57106004	stop gained	C/T	snv			1
rs138952094	SEMA3A			7	83961537	missense variant	G/A	snv	1.2E-03	7.6E-04	1
rs143862988	TAC3			12	57012866	missense variant	T/C;G	snv	1.6E-04; 8.0E-06		1
rs201195175	TACR3			4	103719165	missense variant	C/A;G	snv	4.0E-06		1