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
rs12721046	APOC1			19	44917997	intron variant	G/A	snv		0.11	8
rs157582	TOMM40	0.851	0.160	19	44892962	intron variant	C/T	snv	0.24	0.29	8
rs2393791	HNF1A	0.925	0.160	12	120986153	intron variant	C/T	snv		0.62	8
rs545971	ABO			9	133267960	intron variant	T/A;C	snv			8
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			8
rs674302	ABO			9	133271249	intron variant	A/T	snv			8
rs7529229	IL6R	0.851	0.120	1	154448302	intron variant	T/C	snv		0.48	8
rs11508026	CETP			16	56965416	intron variant	C/T	snv		0.32	7
rs174574	FADS2	1.000	0.080	11	61832870	intron variant	A/C	snv		0.55	7
rs3817588	GCKR	0.882	0.160	2	27508345	intron variant	T/C	snv		0.14	7
rs644234	ABO			9	133266804	intron variant	G/T	snv			7
rs7310409	HNF1A	0.925	0.160	12	120987058	intron variant	A/C;G;T	snv			7
rs10761731	JMJD1C			10	63267850	intron variant	A/T	snv		0.38	6
rs1160985	TOMM40	1.000	0.080	19	44900155	intron variant	C/T	snv		0.52	6
rs1169313	C12orf43			12	121004867	intron variant	T/A;C	snv			6
rs5744256	IL18	0.827	0.120	11	112152125	intron variant	A/G	snv		0.16	6
rs814295	GCKR	0.925	0.120	2	27520348	intron variant	A/G	snv		0.18	6
rs1077834	LIPC ; ALDH1A2			15	58431280	intron variant	T/C	snv		0.34	5
rs10832027	ARNTL			11	13335636	intron variant	G/A	snv		0.67	5
rs1183910	HNF1A	1.000	0.080	12	120983004	intron variant	G/A	snv		0.28	5
rs13233571	BCL7B	0.925	0.120	7	73556901	intron variant	C/T	snv		9.2E-02	5
rs13244268	BAZ1B	0.925	0.120	7	73497513	intron variant	T/C	snv		9.2E-02	5
rs2250417	BCO2	1.000	0.080	11	112214593	intron variant	T/C	snv		0.44	5
rs4845618	IL6R	0.851	0.160	1	154427539	intron variant	G/T	snv		0.53	5
rs9268858	HLA-DRB9	0.882	0.200	6	32461981	intron variant	T/C	snv		0.29	5