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 GENOME	Num. diseases
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
rs10265221	PRKAG2			7	151717243	intron variant	T/A;C	snv		3
rs1986734	SHROOM3	1.000	0.120	4	76499631	intron variant	C/T	snv	0.43	3
rs2073825	ABO			9	133257320	intron variant	A/T	snv	0.25	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
rs574347	ABO			9	133260255	intron variant	T/C	snv	0.27	3
rs579483	ABO			9	133260793	intron variant	T/A	snv		3
rs579622	ABO			9	133260839	intron variant	G/A	snv		3
rs613423	ABO			9	133260074	intron variant	G/A	snv	0.27	3
rs61871700	CPN1			10	100068504	intron variant	C/A;T	snv		3
rs624601	ABO			9	133259961	intron variant	G/A	snv	0.28	3
rs6498142	CLEC16A			16	10987392	intron variant	C/G	snv	0.77	3
rs7940310	PAFAH1B2			11	117153765	intron variant	T/A;C	snv		3
rs8176717	ABO			9	133257647	intron variant	G/T	snv	0.26	3
rs8176728	ABO			9	133257174	intron variant	G/C;T	snv		3
rs8176732	ABO			9	133256916	intron variant	A/G	snv	0.25	3
rs9637599	PPM1K ; PPM1K-DT			4	88285078	intron variant	A/C	snv	0.56	3
rs998259	GCH1	1.000	0.080	14	54888313	intron variant	C/A;T	snv		3
rs10083777	LOC107984858 ; CENPN			16	81031677	intron variant	C/T	snv	0.15	2