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
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv			34
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv			22
rs2187668	LOC107986589 ; HLA-DQA2 ; HLA-DQA1	0.701	0.480	6	32638107	intron variant	C/T	snv		3.3E-03	20
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv			18
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			15
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv			13
rs514659	ABO	0.882	0.120	9	133266790	intron variant	C/A;T	snv			10
rs612169	ABO			9	133268030	intron variant	G/A	snv			10
rs630014	ABO			9	133274306	intron variant	G/A;C	snv			9
rs8176693	ABO	0.851	0.160	9	133262254	intron variant	C/T	snv		9.9E-02	9
rs545971	ABO			9	133267960	intron variant	T/A;C	snv			8
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			8
rs674302	ABO			9	133271249	intron variant	A/T	snv			8
rs644234	ABO			9	133266804	intron variant	G/T	snv			7
rs75885714	PLCL2			3	16901018	intron variant	A/C	snv		4.6E-02	7
rs2169387	LOC157273			8	9323885	intron variant	A/G	snv		0.87	6
rs2731672	GRK6			5	177415473	intron variant	T/C	snv		0.66	6
rs77303550	TXNL4B			16	72045758	intron variant	C/T	snv		0.19	6
rs2250417	BCO2	1.000	0.080	11	112214593	intron variant	T/C	snv		0.44	5
rs2280401	SNORD35B ; RPS11			19	49496752	intron variant	G/A	snv		0.12	5
rs4985726	TNFRSF13B	0.925	0.120	17	16960324	intron variant	C/G	snv		0.11	5
rs10211524	LOC107984063 ; LINC02245			2	64980940	intron variant	G/A	snv		0.51	4
rs3783641	GCH1	0.882	0.120	14	54893421	intron variant	T/A;C	snv		0.25	4
rs4273077	TNFRSF13B	0.925	0.160	17	16945825	intron variant	A/G	snv		0.13	4