DisGeNET - a database of gene-disease associations

List of associated variants

Cone monochromatism, C0339537

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
rs147876778	CNGB3	0.807	0.120	8	86632864	missense variant	C/T	snv	4.6E-03	1.8E-03	6
rs200311463	PDE6H ; LOC105369670	0.827	0.160	12	14978047	stop gained	C/G	snv	8.4E-05	1.3E-04	5
rs104894914	OPN1MW	0.851	0.120	X	154191716	missense variant	T/C	snv			4
rs121434621	OPN1LW	0.882	0.120	X	154154602	missense variant	T/C	snv			3
rs146403122	NR2E3	0.925	0.160	15	71811966	missense variant	G/A	snv	4.3E-03	1.8E-03	2
rs781915220	OPN1LW	0.925	0.160	X	154150787	missense variant	A/G	snv	5.5E-06		2
rs267606927	OPN1MW	0.925	0.120	X	154190173	missense variant	T/C	snv			2
rs104894912	OPN1LW	1.000	0.120	X	154154734	stop gained	C/T	snv			1
rs782797093	OPN1LW	1.000	0.120	X	154156469	missense variant	C/T	snv	5.5E-06		1