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
rs2074683	AP1S1			7	101160333	intron variant	C/T	snv		0.54	1
rs1048303	AP1S1			7	101160859	3 prime UTR variant	C/T	snv		0.54	1
rs2583410	PPP3CA			4	101261042	intron variant	A/C	snv		0.19	1
rs10760799	GRIN3A			9	101651774	intron variant	G/T	snv		0.54	1
rs2448241				14	101948430	non coding transcript exon variant	G/A	snv		0.14	1
rs10905682				10	10216524	intergenic variant	C/T	snv		0.74	1
rs6602411				10	10222237	regulatory region variant	T/C	snv		0.78	1
rs7083450	ELOVL3			10	102224303	upstream gene variant	C/T	snv		0.88	1
rs772031	GBF1			10	102261784	intron variant	A/C;G;T	snv			1
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs8022504	MOK			14	102273938	intron variant	A/C	snv		0.15	1
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs7075281	RPARP-AS1 ; MFSD13A			10	102460544	intron variant	C/A	snv		0.30	1
rs35747	LOC105369944			12	102518780	intergenic variant	G/A	snv		0.70	3
rs3824756	SUFU			10	102599593	intron variant	T/C;G	snv	0.16; 8.2E-06		1
rs4146429				10	102641875	upstream gene variant	T/C	snv		0.10	2
rs4703019	LOC105379104			5	102717854	intron variant	G/A	snv		0.36	1
rs365188				5	102741554	intergenic variant	T/C	snv		0.36	1
rs3803286	TRAF3			14	102780133	intron variant	A/G	snv		0.53	1
rs4906263	TRAF3			14	102782790	intron variant	G/C;T	snv			1
rs284860	WBP1L			10	102813206	missense variant	T/C	snv	0.59	0.57	1
rs7143963	TRAF3			14	102838088	intron variant	C/A;T	snv			1
rs4290163				10	102851169	intron variant	G/T	snv		0.39	1
rs4409766	BORCS7-ASMT ; BORCS7	1.000	0.040	10	102856906	intron variant	T/C	snv		0.14	6
rs12765002	AS3MT ; BORCS7-ASMT	1.000	0.040	10	102875591	intron variant	C/T	snv		0.24	2