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	Num. diseases
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02	37
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv		34
rs635634		0.882	0.160	9	133279427	upstream gene variant	T/A;C	snv		22
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv		22
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
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35	14
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
rs649129		1.000	0.080	9	133278860	upstream gene variant	T/C;G	snv		10
rs630014	ABO			9	133274306	intron variant	G/A;C	snv		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
rs3733402	KLKB1	1.000	0.040	4	186236880	missense variant	G/A;C	snv	0.54	5
rs10265221	PRKAG2			7	151717243	intron variant	T/A;C	snv		3
rs2040771				22	19174422	downstream gene variant	C/A;T	snv		3
rs579483	ABO			9	133260793	intron variant	T/A	snv		3
rs579622	ABO			9	133260839	intron variant	G/A	snv		3
rs61871700	CPN1			10	100068504	intron variant	C/A;T	snv		3
rs688976	ABO			9	133261367	missense variant	C/A	snv		3
rs7940310	PAFAH1B2			11	117153765	intron variant	T/A;C	snv		3
rs8176728	ABO			9	133257174	intron variant	G/C;T	snv		3