DisGeNET - a database of gene-disease associations

List of associated variants

Deuteranomaly, C3887938

Source: ALL

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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
rs143624519	MAPT	0.724	0.240	17	45991484	missense variant	G/A;T	snv	1.5E-03; 1.2E-05		17
rs242557	MAPT	0.752	0.200	17	45942346	intron variant	G/A	snv		0.36	12
rs200215055	FCGR3B	0.742	0.400	1	161626196	missense variant	C/A;G;T	snv	1.5E-03; 1.2E-05; 4.0E-06		11
rs76980269	NOS1	0.763	0.280	12	117330794	synonymous variant	G/A	snv	2.8E-05	4.2E-05	10
rs1768208	MOBP	0.851	0.200	3	39481512	intron variant	T/C	snv		0.76	4
rs104894914	OPN1MW	0.851	0.120	X	154191716	missense variant	T/C	snv			4
rs1042140	HLA-DPA1 ; HLA-DPB1	1.000	0.120	6	33080863	stop gained	A/C;G;T	snv	2.4E-05; 0.25		2
rs104894915	OPN1MW	1.000	0.120	X	154187939	missense variant	C/A	snv			1
rs104894916	OPN1MW	1.000	0.120	X	154195934	missense variant	G/A	snv			1
rs724159983	OPN1MW	1.000	0.120	X	154182566	upstream gene variant	A/C	snv			1