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
rs9292578	PRLR			5	35229973	intron variant	C/A;G	snv			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
rs10809070	PTPRD			9	10341235	intron variant	C/G	snv		0.30	1
rs34571439	RBP4 ; FFAR4			10	93591553	intron variant	A/C	snv		0.24	1
rs7091052	RBP4 ; FFAR4			10	93595641	intron variant	G/A	snv		0.15	1
rs4917356	RXRA			9	134365597	intron variant	T/C;G	snv		0.15	1
rs17429130	RXRG			1	165401015	3 prime UTR variant	G/C	snv		4.2E-02	1
rs13154178	SELENOP			5	42827999	intron variant	G/A	snv		0.31	1
rs351219	STRA6			15	74196866	intron variant	T/C	snv		0.44	1
rs3741845	TAS2R9			12	10809516	missense variant	A/G	snv	0.60	0.51	1
rs7094463	TCF7L2			10	112952224	intron variant	A/G	snv		0.57	1
rs3025010	VEGFA			6	43779840	non coding transcript exon variant	T/C;G	snv			1
rs10229583		1.000	0.080	7	127606849	downstream gene variant	G/A	snv		0.23	2
rs3750625	ADRA2A			10	111079843	3 prime UTR variant	C/A	snv		8.7E-02	2
rs6456368	CDKAL1	1.000	0.080	6	20659575	intron variant	T/C	snv		0.40	2
rs6935599	CDKAL1	1.000	0.080	6	20716864	intron variant	A/G	snv		0.31	2
rs7747752	CDKAL1	1.000	0.080	6	20725192	intron variant	G/C	snv		0.34	2
rs7767391	CDKAL1	1.000	0.080	6	20725009	intron variant	T/C	snv		0.28	2
rs9348440	CDKAL1	1.000	0.080	6	20641105	intron variant	C/T	snv		0.13	2
rs9350276	CDKAL1	1.000	0.080	6	20740065	intron variant	C/T	snv		0.38	2
rs2021966	ENPP1	1.000	0.080	6	131829299	intron variant	A/G	snv		0.42	2
rs7041847	GLIS3	1.000	0.080	9	4287466	intron variant	A/G	snv		0.37	2
rs1885088	HNF4A	1.000	0.080	20	44410400	intron variant	G/A	snv		0.15	2
rs1366600	INSR	1.000	0.080	19	7112870	3 prime UTR variant	A/G	snv		5.9E-02	2