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
rs272889	SLC22A4 ; MIR3936HG			5	132329685	intron variant	A/G	snv		0.64	2
rs2971672	GCK			7	44166307	intron variant	A/C	snv		0.44	4
rs4149081	SLCO1B1	1.000	0.040	12	21225087	intron variant	G/A	snv		0.18	5
rs4253252	KLKB1			4	186236304	intron variant	T/G	snv		0.56	3
rs4329	ACE			17	63486097	intron variant	A/C;G	snv			2
rs4481233	SLC2A9	0.925	0.120	4	9954455	intron variant	C/T	snv		0.16	5
rs4506565	TCF7L2	0.790	0.280	10	112996282	intron variant	A/G;T	snv			22
rs4704221	CERT1	0.851	0.120	5	75463358	intron variant	T/A;C	snv			16
rs477992	PHGDH			1	119714953	intron variant	A/G	snv		0.69	4
rs4905014	ITPK1	0.851	0.120	14	92945686	intron variant	G/A;C	snv			16
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs5744680	POLK	0.851	0.120	5	75584065	intron variant	G/A	snv		0.55	18
rs57884925	GLIS3			9	4285119	intron variant	C/G;T	snv			2
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv		0.34	13
rs60808706	KCNQ1			11	2836003	intron variant	G/A	snv		0.12	4
rs612169	ABO			9	133268030	intron variant	G/A	snv			10
rs61824877	LINC00862			1	200273504	intron variant	G/A	snv		0.11	3
rs6558295	GPAA1			8	144084619	intron variant	C/G	snv	8.1E-02	0.14	2
rs662138	SLC22A1			6	160143444	intron variant	C/G	snv		0.14	2
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			14
rs6759518	SLC30A3	0.851	0.120	2	27263727	intron variant	G/C	snv		5.5E-02	16
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
rs7115242	SIK3	0.851	0.120	11	117037567	intron variant	A/G;T	snv			16
rs7190256	ZFHX3	0.851	0.120	16	72963084	intron variant	C/T	snv		0.94	16