DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs612169	ABO	9	133268030	intron variant	G/A	snv		10
rs630014	ABO	9	133274306	intron variant	G/A;C	snv		9
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
rs2066861	FGG	4	154606284	intron variant	C/T	snv	0.26	5
rs7681423		4	154621096	intergenic variant	C/T	snv	0.26	5
rs2420371	F5	1	169522317	intron variant	G/A	snv	0.95	4
rs3758348	SURF4	9	133372523	intron variant	G/C	snv	0.13	4
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
rs1593	F11	4	186274397	3 prime UTR variant	T/A;G	snv		3
rs2073825	ABO	9	133257320	intron variant	A/T	snv	0.25	3
rs2073827	ABO	9	133261730	intron variant	G/C	snv		3
rs502361		9	133280016	upstream gene variant	G/C	snv	0.26	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
rs568203	ABO	9	133276029	upstream gene variant	C/A;G	snv		3
rs574347	ABO	9	133260255	intron variant	T/C	snv	0.27	3