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
rs1006737	CACNA1C	0.695	0.120	12	2236129	intron variant	G/A	snv	0.36	27
rs10275045	MAD1L1	0.882	0.160	7	1881190	intron variant	C/T	snv	0.35	5
rs10496702	NCKAP5			2	133247997	intron variant	G/A	snv	0.18	2
rs11164835	DIPK1A			1	92913536	intron variant	G/A	snv	0.35	2
rs11740562	ADAM19			5	157515277	intron variant	A/G	snv	7.1E-02	2
rs12282742	SAA2-SAA4 ; SAA2			11	18244252	intron variant	C/G;T	snv		2
rs12745968	DIPK1A			1	92936280	intron variant	A/G	snv	0.36	2
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv		21
rs165940	LOC107986348 ; PDE4D	0.925	0.040	5	59383658	intron variant	A/T	snv	0.38	4
rs1992044	LOC105375856 ; LINC01602			8	57928349	intron variant	G/A;T	snv		2
rs1992045	LOC105375856 ; LINC01602			8	57928365	intron variant	C/T	snv	0.14	2
rs2023239	CNR1	0.724	0.160	6	88150763	intron variant	T/C	snv	0.21	20
rs2044117	NALCN ; NALCN-AS1			13	101055958	intron variant	G/A	snv	0.19	2
rs2054399	KCNMB2-AS1 ; KCNMB2	0.925	0.040	3	178623794	intron variant	G/A;C	snv		4
rs4356203	PIK3C2A	0.925	0.040	11	17138601	intron variant	A/G	snv	0.31	4
rs4813376	RIN2			20	19870811	intron variant	T/G	snv	0.86	2
rs4996815				13	105999312	intron variant	G/T	snv	0.61	2
rs6024905	BPI			20	38329435	intron variant	G/A	snv	0.47	2
rs6444931	CLDN11			3	170445686	intron variant	G/A	snv	0.85	2
rs6484218	CAND1.11 ; AMPD3	0.882	0.040	11	10369034	intron variant	G/A	snv	0.21	5
rs7065696	PHF8			X	53947621	intron variant	C/G;T	snv		2
rs7219021	TTLL6	0.925	0.040	17	48763179	intron variant	T/G	snv	0.26	4
rs7248363	PGPEP1			19	18357076	intron variant	T/C	snv	0.74	2
rs7600871	NCKAP5			2	133257389	intron variant	C/T	snv	0.16	2
rs7727102				5	4720472	intron variant	G/C	snv	0.32	2