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	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs10016631	POLR2B	4	57019797	intron variant	A/G;T	snv		1
rs1006310	ATF6	1	161841765	intron variant	T/C;G	snv		1
rs10075801	MIR3936HG ; SLC22A4	5	132341949	intron variant	A/G	snv	0.31	5
rs10087240	PVT1	8	128000328	intron variant	C/G;T	snv		2
rs10094382	CHD7	8	60860726	intron variant	C/T	snv	0.46	1
rs10098310	CCDC26	8	129601368	intron variant	G/A;T	snv		3
rs1010109	ARHGAP26	5	143174597	intron variant	A/G	snv	0.15	1
rs10120452	GABBR2	9	98623959	intron variant	G/A	snv	0.17	1
rs10129035		12	83706429	intergenic variant	T/A;C	snv		1
rs10138752	RAD51B	14	68713254	intron variant	C/T	snv	8.8E-02	5
rs10146637	FBXO34	14	55278092	intron variant	G/A	snv	0.30	2
rs1015022	LOC105372802 ; ERG	21	38507058	intron variant	G/C	snv	0.26	1
rs10158210		1	158342195	intergenic variant	A/G;T	snv		1
rs1016680		17	37514283	downstream gene variant	A/C	snv	0.74	1
rs10178094	RBMS1	2	160479895	intron variant	C/A;T	snv		1
rs10178249	CNTNAP5	2	124696819	intron variant	A/G	snv	0.42	1
rs10206089		2	61476184	intron variant	G/A	snv		4
rs10215854	PTCD1 ; CPSF4 ; ATP5MF-PTCD1	7	99439297	intron variant	G/A	snv	0.19	2
rs1023667		5	158541893	intron variant	G/A;C	snv		1
rs10252662		7	44771624	downstream gene variant	C/T	snv	0.37	1
rs10255299	DOCK4	7	111887504	intron variant	G/A	snv	0.11	2
rs1025688	MAPK4	18	50621506	intron variant	G/A	snv	0.35	3
rs10273974	ZC3HAV1	7	139050766	intron variant	A/C	snv	0.48	1
rs1029809	PIGL	17	16252921	intron variant	A/G	snv	0.41	1
rs10305751	ARNT	1	150810982	3 prime UTR variant	C/G;T	snv		1