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 GENOME	Num. diseases
rs2650000	HNF1A-AS1	0.851	0.200	12	120951159	intron variant	A/C	snv	0.70	10
rs612169	ABO			9	133268030	intron variant	G/A	snv		10
rs17168486	DGKB	1.000	0.080	7	14858657	intron variant	C/T	snv	0.18	5
rs4149081	SLCO1B1	1.000	0.040	12	21225087	intron variant	G/A	snv	0.18	5
rs4481233	SLC2A9	0.925	0.120	4	9954455	intron variant	C/T	snv	0.16	5
rs2971672	GCK			7	44166307	intron variant	A/C	snv	0.44	4
rs477992	PHGDH			1	119714953	intron variant	A/G	snv	0.69	4
rs60808706	KCNQ1			11	2836003	intron variant	G/A	snv	0.12	4
rs6975024	GCK			7	44192287	intron variant	T/C	snv	0.14	4
rs7094971	SLC16A9	0.925	0.120	10	59689806	intron variant	A/G	snv	0.13	4
rs10885409	TCF7L2	1.000	0.080	10	113048313	intron variant	T/C	snv	0.54	3
rs11185790	PANK1			10	89612776	intron variant	G/A	snv	0.15	3
rs11705729	IGF2BP2	1.000	0.080	3	185789511	intron variant	A/T	snv	0.45	3
rs11924032	SLC2A2			3	171017310	intron variant	G/A	snv	0.29	3
rs2624265	LINC02694			15	38856448	intron variant	T/C	snv	0.28	3
rs4253252	KLKB1			4	186236304	intron variant	T/G	snv	0.56	3
rs61824877	LINC00862			1	200273504	intron variant	G/A	snv	0.11	3
rs7760535	REV3L ; MFSD4B			6	111425880	intron variant	G/C	snv	0.46	3
rs9358356	CDKAL1	1.000	0.080	6	20667151	intron variant	T/C	snv	0.39	3
rs9393903	ELOVL2 ; ELOVL2-AS1			6	11042676	intron variant	G/A	snv	0.18	3
rs9943291	HMGCS2			1	119749667	intron variant	T/G	snv	8.2E-02	3
rs10518693	IVD			15	40407823	intron variant	C/T	snv	0.37	2
rs12053049	SPC25			2	168910638	intron variant	T/C	snv	5.2E-02	2
rs12670403	LOC101927609 ; AHR			7	17269655	intron variant	C/A	snv	0.46	2
rs12712928				2	44964941	intron variant	G/C	snv	0.18	2