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
rs11637898	ST8SIA2	0.925	0.040	15	92409620	intron variant	G/A	snv		0.43	2
rs1618355	TRPM2	0.925	0.040	21	44406579	intron variant	C/A;G	snv	0.73; 1.7E-05		2
rs722642		1.000	0.040	9	78681003	intergenic variant	T/C	snv		0.72	1
rs1935057	DAOA-AS1	1.000	0.040	13	105458997	upstream gene variant	G/A	snv		0.51	1
rs11956731	GABRA6	1.000	0.040	5	161700816	intron variant	C/A;T	snv			1
rs13188991	GABRA6	1.000	0.040	5	161685998	synonymous variant	G/A;C	snv	0.19	0.18	1
rs2197414	GABRA6	1.000	0.040	5	161681878	intron variant	G/A;C	snv			1
rs4921195	GABRA6	1.000	0.040	5	161684582	intron variant	C/A;T	snv			1
rs11636988	GABRB3	1.000	0.040	15	26577667	intron variant	G/A	snv		0.43	1
rs8024256	GABRB3	1.000	0.040	15	26584374	intron variant	A/G	snv		0.61	1
rs3815762	GABRP	1.000	0.040	5	170788816	intron variant	T/A	snv		0.11	1
rs4868029	GABRP	1.000	0.040	5	170790498	intron variant	C/T	snv		0.36	1
rs1475196	HTR2A	1.000	0.040	13	46881488	intron variant	A/C	snv		1.4E-03	1
rs9567747	HTR2A	1.000	0.040	13	46886479	intron variant	A/G	snv		0.19	1
rs11001178	KAT6B	1.000	0.040	10	74842047	intron variant	T/C;G	snv			1
rs12547858	NRG1	1.000	0.040	8	32629535	intron variant	C/T	snv		0.15	1
rs3757933	NRG1	1.000	0.040	8	32747325	intron variant	G/A	snv		0.23	1
rs6468121	NRG1	1.000	0.040	8	32643290	intron variant	G/T	snv		0.49	1
rs2217887	NRXN3	1.000	0.040	14	79417482	intron variant	T/C	snv		0.31	1
rs7619173	SOX2-OT	1.000	0.040	3	181279171	intron variant	C/T	snv		0.49	1
rs17110566	TPH2	1.000	0.040	12	71972867	intron variant	G/A	snv		3.9E-02	1