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
rs61871700	CPN1			10	100068504	intron variant	C/A;T	snv			3
rs1718309	PAH			12	102848618	intron variant	A/G	snv		0.67	2
rs12327057	LOC107985165			18	1051566	intron variant	T/C	snv		0.18	1
rs17159338	LINC01950			5	106942471	intron variant	T/C	snv		6.8E-02	2
rs6498142	CLEC16A			16	10987392	intron variant	C/G	snv		0.77	3
rs14399	SLC16A10			6	111222741	3 prime UTR variant	C/A	snv		0.32	3
rs2250417	BCO2	1.000	0.080	11	112214593	intron variant	T/C	snv		0.44	5
rs7940310	PAFAH1B2			11	117153765	intron variant	T/A;C	snv			3
rs4303899	LINC02024			3	117682524	intron variant	A/G	snv		8.4E-02	1
rs41272321	ACAD11 ; NPHP3-ACAD11			3	132619502	missense variant	T/C;G	snv	8.6E-06; 0.11		2
rs8176740	ABO			9	133256085	missense variant	A/T	snv	0.25	0.25	2
rs8176732	ABO			9	133256916	intron variant	A/G	snv		0.25	3
rs8176728	ABO			9	133257174	intron variant	G/C;T	snv			3
rs2073825	ABO			9	133257320	intron variant	A/T	snv		0.25	3
rs8176717	ABO			9	133257647	intron variant	G/T	snv		0.26	3
rs8176714	ABO			9	133257791	intron variant	G/A	snv		0.26	4
rs512770	ABO			9	133258116	missense variant	G/A	snv		0.24	1
rs641959	ABO			9	133258308	intron variant	A/C	snv		0.29	4
rs641943	ABO			9	133258323	intron variant	A/G	snv		0.29	4
rs514708	ABO			9	133258352	intron variant	C/T	snv		0.29	4
rs517414	ABO			9	133258643	intron variant	G/A	snv		0.26	3
rs626035	ABO			9	133259603	intron variant	T/G	snv		0.28	4
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