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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10804591		3	129615390	intergenic variant	C/A	snv		0.63	5
rs10245353		7	25818994	intergenic variant	C/A	snv		0.16	4
rs34309	PIK3R1	5	68268555	intron variant	G/A	snv		0.29	2
rs3750625	ADRA2A	10	111079843	3 prime UTR variant	C/A	snv		8.7E-02	2
rs4746822	LOC101928994 ; HKDC1	10	69223185	non coding transcript exon variant	C/T	snv		0.59	2
rs10068521	PRLR	5	35230278	5 prime UTR variant	G/A;C	snv			1
rs10278590	LRRC61 ; RARRES2	7	150338437	missense variant	T/A;C;G	snv			1
rs1042531	PCK1	20	57565924	3 prime UTR variant	T/G	snv		0.45	1
rs1042842	MFN2	1	12011623	3 prime UTR variant	A/G	snv		0.71	1
rs1050800	LPIN1	2	11825688	3 prime UTR variant	C/T	snv		0.12	1
rs10511544	PTPRD	9	10319881	intron variant	A/C	snv		0.32	1
rs10756026	PTPRD	9	10337976	intron variant	T/A	snv		0.34	1
rs10762264	LOC101928994	10	69217077	intron variant	G/A	snv		0.58	1
rs10802502	NLRP3	1	247448993	3 prime UTR variant	C/T	snv		0.55	1
rs10809070	PTPRD	9	10341235	intron variant	C/G	snv		0.30	1
rs13154178	SELENOP	5	42827999	intron variant	G/A	snv		0.31	1
rs17429130	RXRG	1	165401015	3 prime UTR variant	G/C	snv		4.2E-02	1
rs1800038	ADRA2A	10	111079134	synonymous variant	C/A	snv	7.4E-02	4.9E-02	1
rs201607471	ADRB3	8	37966397	missense variant	C/T	snv	8.5E-06		1
rs2236745	PCK1	20	57561937	non coding transcript exon variant	T/C	snv		0.44	1
rs2254514	IL15	4	141719385	5 prime UTR variant	T/A;C	snv			1
rs231841	KCNQ1	11	2702374	intron variant	G/T	snv		0.45	1
rs2328549	CDKAL1	6	20718009	intron variant	A/T	snv		0.18	1
rs2394529	HKDC1 ; LOC101928994	10	69225511	intron variant	G/A;C	snv			1
rs2585	INS-IGF2 ; IGF2	11	2129214	3 prime UTR variant	T/C;G	snv			1