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
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv			14
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv			12
rs612169	ABO			9	133268030	intron variant	G/A	snv			10
rs630014	ABO			9	133274306	intron variant	G/A;C	snv			9
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			9
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv			9
rs514659	ABO	0.882	0.120	9	133266790	intron variant	C/A;T	snv			8
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv			8
rs545971	ABO			9	133267960	intron variant	T/A;C	snv			8
rs674302	ABO			9	133271249	intron variant	A/T	snv			8
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			7
rs644234	ABO			9	133266804	intron variant	G/T	snv			7
rs8176693	ABO	0.851	0.160	9	133262254	intron variant	C/T	snv		9.9E-02	5
rs514708	ABO			9	133258352	intron variant	C/T	snv		0.29	4
rs626035	ABO			9	133259603	intron variant	T/G	snv		0.28	4
rs641943	ABO			9	133258323	intron variant	A/G	snv		0.29	4
rs641959	ABO			9	133258308	intron variant	A/C	snv		0.29	4
rs8176714	ABO			9	133257791	intron variant	G/A	snv		0.26	4
rs8176749	ABO	1.000	0.040	9	133255801	synonymous variant	C/T	snv	0.12	0.11	4
rs2073825	ABO			9	133257320	intron variant	A/T	snv		0.25	3
rs2073827	ABO			9	133261730	intron variant	G/C	snv			3
rs517414	ABO			9	133258643	intron variant	G/A	snv		0.26	3
rs547643	ABO			9	133259656	intron variant	C/T	snv		0.27	3
rs549331	ABO			9	133259791	intron variant	C/G	snv		0.28	3
rs549446	ABO			9	133259834	missense variant	C/T	snv		0.27	3