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
rs905938	ZBTB7B ; DCST2			1	155018913	intron variant	T/C	snv		0.24	5
rs987237	TFAP2B	0.925	0.120	6	50835337	intron variant	A/G	snv		0.17	5
rs9991328	FAM13A			4	88791970	intron variant	C/T	snv		0.53	5
rs1011731	DNM3 ; PIGC			1	172377408	intron variant	G/A	snv		0.46	4
rs10842707				12	26318431	intron variant	C/G;T	snv			4
rs10923712	TBX15			1	118962811	intron variant	G/A	snv		0.56	4
rs1452075	CADPS	1.000	0.040	3	62495388	intron variant	C/T	snv		0.73	4
rs1513272	JAZF1			7	28160478	intron variant	C/T	snv		0.40	4
rs17249754	ATP2B1	0.882	0.120	12	89666809	intron variant	G/A	snv		0.15	4
rs2033529	TDRG1			6	40380914	intron variant	A/C;G	snv			4
rs2287019	QPCTL	1.000	0.080	19	45698914	intron variant	C/T	snv	0.17	0.16	4
rs2294239	ZNRF3			22	29053489	intron variant	A/G	snv		0.36	4
rs301806	RERE	0.851	0.120	1	8422018	intron variant	C/T	snv		0.62	4
rs55747707	MLXIPL			7	73623036	intron variant	G/A	snv		0.16	4
rs6545714				2	59080590	intron variant	G/A;C	snv			4
rs6780171	IGF2BP2			3	185785668	intron variant	T/A	snv		0.39	4
rs718314	LOC105369705	0.882	0.120	12	26300350	intron variant	A/G	snv		0.27	4
rs7246865	MYO9B			19	17108295	intron variant	G/A	snv		0.36	4
rs7647305	DGKG	1.000	0.080	3	186116501	intron variant	T/C	snv		0.74	4
rs8054556	TMEM219	0.925	0.080	16	29946895	intron variant	G/A;C;T	snv			4
rs887912		1.000	0.080	2	59075742	intron variant	T/C;G	snv			4
rs9435732	MFAP2			1	16981663	intron variant	C/G;T	snv			4
rs10761785	REEP3			10	63559006	intron variant	G/T	snv		0.51	3
rs10980797	LOC105376219			9	111150273	intron variant	A/G;T	snv			3
rs1106529	TBX15			1	118988874	intron variant	G/A	snv		0.77	3