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
rs1963304	ZKSCAN1			7	100028173	intron variant	T/A;G	snv			1
rs4486555				10	100039545	downstream gene variant	G/T	snv		0.40	1
rs11599750	CPN1			10	100045685	intron variant	C/T	snv		0.40	3
rs397807524	ADAMTS17			15	100052239	intron variant	-/AA	ins		7.0E-06	1
rs149578709	ADAMTS17			15	100132203	intron variant	A/G	snv	9.0E-03	5.2E-03	1
rs4851253	AFF3			2	100146324	intron variant	T/G	snv		0.44	1
rs72755233	ADAMTS17	1.000	0.080	15	100152748	missense variant	G/A;T	snv	7.1E-02; 3.2E-05		5
rs6857001	LOC105374476 ; SLC2A9			4	10016456	intron variant	G/A	snv		0.32	1
rs76301628	ADAMTS17			15	100183232	intron variant	G/T	snv		3.4E-02	1
rs4965593	ADAMTS17			15	100218180	intron variant	C/G;T	snv			2
rs4965598	ADAMTS17			15	100219409	intron variant	C/A;T	snv			2
rs4533267	ADAMTS17			15	100246066	intron variant	A/G	snv		0.63	2
rs4369638	ADAMTS17			15	100254158	synonymous variant	C/T	snv	0.75	0.76	1
rs4467054	ADAMTS17			15	100255167	intron variant	G/A;T	snv			1
rs4965612	ADAMTS17			15	100261237	intron variant	A/G	snv		0.72	1
rs28411867	ADAMTS17			15	100314288	intron variant	C/T	snv		0.19	1
rs17420882	CDC14A			1	100353172	intron variant	T/G	snv		0.22	1
rs78352137	WDR25			14	100454079	intron variant	T/C	snv		7.7E-02	2
rs9300607	GGACT			13	100571205	intron variant	A/C;T	snv			1
rs2495739				10	100575750	intergenic variant	C/T	snv		0.20	1
rs10165255	CYS1			2	10059474	intron variant	A/G	snv		0.59	2
rs117182230	DLK1			14	100729932	intron variant	C/T	snv		4.0E-03	1
rs3783350	DLK1			14	100732685	intron variant	G/A	snv		0.64	1
rs3133577				8	100793314	intergenic variant	C/G;T	snv			1
rs79990258	ZAN			7	100794560	intron variant	T/A	snv		2.4E-02	1