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
rs2073827	ABO			9	133261730	intron variant	G/C	snv			3
rs500498	ABO			9	133273232	intron variant	C/T	snv			2
rs502361				9	133280016	upstream gene variant	G/C	snv		0.26	3
rs514708	ABO			9	133258352	intron variant	C/T	snv		0.29	4
rs545971	ABO			9	133267960	intron variant	T/A;C	snv			8
rs568203	ABO			9	133276029	upstream gene variant	C/A;G	snv			3
rs612169	ABO			9	133268030	intron variant	G/A	snv			10
rs626035	ABO			9	133259603	intron variant	T/G	snv		0.28	4
rs630014	ABO			9	133274306	intron variant	G/A;C	snv			9
rs641943	ABO			9	133258323	intron variant	A/G	snv		0.29	4
rs641959	ABO			9	133258308	intron variant	A/C	snv		0.29	4
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			8
rs644234	ABO			9	133266804	intron variant	G/T	snv			7
rs660340	ABO			9	133272138	intron variant	G/A	snv			2
rs672316	ABO			9	133262722	intron variant	T/G	snv		0.29	3
rs674302	ABO			9	133271249	intron variant	A/T	snv			8
rs7857390	ABO			9	133253159	non coding transcript exon variant	A/G	snv		0.67	2
rs8176681	ABO			9	133264351	intron variant	T/C	snv			3
rs8176682	ABO			9	133263894	intron variant	C/T	snv			3
rs8176714	ABO			9	133257791	intron variant	G/A	snv		0.26	4
rs8176748	ABO			9	133255902	missense variant	C/A;T	snv	4.0E-06; 0.27		2
rs649129		1.000	0.080	9	133278860	upstream gene variant	T/C;G	snv			10
rs514659	ABO	0.882	0.120	9	133266790	intron variant	C/A;T	snv			10
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv			13
rs633862		0.925	0.120	9	133279871	upstream gene variant	T/C	snv		0.49	5