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
rs10007975	C4orf17			4	99527667	intron variant	C/T	snv		0.27	1
rs1000972				20	6641070	regulatory region variant	T/A;G	snv			2
rs10010325	TET2 ; TET2-AS1	1.000	0.040	4	105185196	intron variant	C/A;G;T	snv			4
rs10013696	TBC1D14			4	6977000	intron variant	A/G	snv		0.45	1
rs10015974	WWC2			4	183275101	intron variant	A/G;T	snv			1
rs10019221	KCNIP4			4	21783741	intron variant	G/C;T	snv			1
rs10026360	LINC02428			4	103453439	intron variant	T/C	snv		0.36	1
rs10031777	ZAR1			4	48496273	downstream gene variant	T/C;G	snv			1
rs10037512	MEF2C-AS1			5	89058858	intron variant	T/A;C	snv			3
rs10037743				5	33163672	intron variant	T/C;G	snv			1
rs10046853	NFIB			9	14456933	intron variant	C/G	snv		0.39	1
rs1005502	LINC00536			8	116155618	intron variant	C/T	snv		0.51	1
rs10058074	MIR3936HG			5	132350453	intron variant	G/A	snv		0.31	3
rs10059884				5	32832368	regulatory region variant	C/A;T	snv			5
rs10060053	LOC107986489			5	177693696	intron variant	T/C	snv		0.57	1
rs10061757				5	56790978	intergenic variant	G/C	snv		0.50	1
rs1006224	C1orf21			1	184572468	intron variant	G/A	snv		0.40	1
rs1006660				15	89340289	downstream gene variant	T/A;C	snv			1
rs10073495	GOLPH3			5	32160607	intron variant	T/A;C	snv			1
rs1007358				7	46161757	intergenic variant	A/G	snv		0.23	1
rs10082444	PROSER2 ; PROSER2-AS1			10	11865983	intron variant	T/C	snv		0.21	1
rs10088006	HAS2-AS1			8	121652881	intron variant	A/G;T	snv			1
rs10090382	LOC105375894 ; EYA1			8	71199443	intron variant	T/C	snv	0.40	0.35	1
rs10091130	ASAP1			8	130361641	non coding transcript exon variant	C/G;T	snv	0.77		1
rs1009404				6	113405402	intergenic variant	T/C	snv		0.71	1