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
rs7118481				11	1327108	regulatory region variant	G/A;C;T	snv			1
rs7625734				3	169791127	upstream gene variant	T/A;C;G	snv			1
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs117603931	ABCA3	0.882	0.080	16	2319591	missense variant	C/T	snv	5.7E-03	6.5E-03	4
rs549977217	ABCA3			16	2284869	missense variant	C/T	snv	4.6E-04	1.0E-04	1
rs768483175	ABCA3			16	2319832	missense variant	G/A	snv	2.4E-05	7.0E-06	1
rs879159551	ABCA3			16	2319811	missense variant	G/T	snv			1
rs9860874	ACTRT3			3	169768483	intron variant	C/A	snv		0.33	1
rs12438724	ADAMTS7P4			15	85282062	intron variant	C/T	snv		0.41	1
rs16941432	AKAP13			15	85559945	intron variant	A/G	snv		0.37	1
rs2169877	AKAP13			15	85542571	intron variant	G/A	snv		0.70	1
rs10507391	ALOX5AP	0.776	0.320	13	30737959	intron variant	A/T	snv		0.52	10
rs7731626	ANKRD55	0.716	0.240	5	56148856	intron variant	G/A	snv		0.30	16
rs1278769	ATP11A			13	112882313	3 prime UTR variant	A/G	snv		0.77	1
rs2283017	AZGP1			7	99977135	intron variant	A/G	snv		0.35	1
rs2525556	AZGP1P1			7	99980121	upstream gene variant	T/C	snv		0.35	1
rs1379326	CSMD1			8	4760288	intron variant	T/C;G	snv			1
rs2441727	CTNNA3			10	66465128	intron variant	A/G	snv		0.21	1
rs7005380	DEPTOR			8	119941633	intron variant	G/A;C	snv			1
rs1007177	DISP2			15	40359637	intron variant	A/G;T	snv			1
rs1992272	DISP2			15	40366769	intron variant	T/C	snv		0.69	1
rs12610495	DPP9			19	4717660	missense variant	A/G;T	snv	0.25		1
rs2109069	DPP9			19	4719431	intron variant	G/A	snv		0.27	1
rs2076295	DSP	0.882	0.080	6	7562999	intron variant	T/G	snv		0.46	5
rs10484326	DSP			6	7558085	intron variant	T/C	snv	0.20	0.21	1