DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	30
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv		0.10	22
rs4506565	TCF7L2	0.790	0.280	10	112996282	intron variant	A/G;T	snv			18
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	18
rs2925979	CMIP	1.000	0.080	16	81501185	intron variant	T/A;C	snv			9
rs459193	C5orf67	0.925	0.120	5	56510924	downstream gene variant	A/G	snv		0.69	9
rs12454712	BCL2	0.925	0.120	18	63178651	intron variant	T/A;C	snv			7
rs7607980	COBLL1	1.000	0.080	2	164694691	missense variant	T/C	snv	0.11	0.13	7
rs10195252	COBLL1	0.925	0.080	2	164656581	intron variant	T/C	snv		0.48	6
rs11048456	LOC105369705	1.000	0.080	12	26310149	intron variant	C/T	snv		0.62	6
rs10184004		1.000	0.080	2	164651879	downstream gene variant	C/T	snv		0.48	5
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		5
rs2943641		0.763	0.160	2	226229029	intergenic variant	T/C	snv		0.67	5
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	5
rs2972143		1.000	0.080	2	226251649	intergenic variant	A/G	snv		0.67	4
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	3
rs9686661	C5orf67	1.000	0.080	5	56565959	intron variant	C/T	snv		0.20	3
rs9687833	C5orf67	1.000	0.080	5	56565774	intron variant	G/A	snv		0.21	3