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
rs2274407	ABCC4	0.882	0.120	13	95206781	missense variant	C/A;G;T	snv	9.7E-02	0.10	4
rs3765534	ABCC4	0.882	0.200	13	95163161	missense variant	C/T	snv	2.3E-02	1.2E-02	4
rs9561778	ABCC4	0.851	0.120	13	95061461	intron variant	G/A;T	snv			4
rs11568658	SNORD13G ; ABCC4	0.925	0.040	13	95210754	missense variant	C/A	snv	4.9E-02	3.0E-02	3
rs16950650	ABCC4	1.000	0.080	13	95123178	intron variant	C/T	snv		4.7E-02	2
rs17268122	ABCC4	1.000	0.080	13	95192240	intron variant	G/A;C;T	snv			2
rs9524885	ABCC4			13	95283335	intron variant	T/C	snv		0.63	2
rs9556465	ABCC4			13	95205263	intron variant	G/T	snv		3.4E-03	2
rs9590177	ABCC4			13	95083956	intron variant	C/T	snv		3.4E-02	2
rs11568695	ABCC4	1.000	0.080	13	95044286	synonymous variant	C/T	snv	1.2E-02	4.7E-02	1
rs3742106	ABCC4	1.000	0.080	13	95021537	3 prime UTR variant	A/C	snv	0.41	0.37	1
rs4148435	ABCC4			13	95247462	intron variant	C/A	snv		0.91	1
rs4148441	ABCC4			13	95245953	intron variant	A/G	snv		0.91	1
rs4148500	ABCC4	1.000	0.040	13	95166034	intron variant	G/A	snv		1.9E-02	1
rs4148546	ABCC4			13	95028031	intron variant	G/A	snv		0.55	1
rs4584690	ABCC4			13	95027878	intron variant	T/C;G	snv			1
rs7317112	ABCC4	1.000	0.080	13	95271269	intron variant	A/G	snv		0.37	1
rs766715154	ABCC4			13	95206759	missense variant	T/C;G	snv	4.0E-06		1
rs7986087	ABCC4	1.000	0.120	13	95263491	intron variant	C/T	snv		9.7E-02	1
rs9524862	ABCC4			13	95242373	intron variant	G/A	snv		0.55	1
rs9590225	ABCC4	1.000	0.080	13	95263947	intron variant	C/T	snv		1.9E-02	1
rs868853	ABCC4 ; LOC102724149	1.000	0.120	13	95302822	upstream gene variant	C/T	snv		0.85	1