DisGeNET - a database of gene-disease associations

List of associated variants

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, C1848172

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
rs201654095	CACNA1F	0.882	0.160	X	49224864	missense variant	C/G	snv			4
rs122456133	CACNA1F	0.882	0.080	X	49228048	missense variant	C/T	snv			3
rs122456136	CACNA1F	0.882	0.080	X	49222576	missense variant	A/G	snv			3
rs122456134	CACNA1F	0.925	0.080	X	49218511	stop gained	G/A	snv			2
rs122456135	CACNA1F	0.925	0.080	X	49219344	stop gained	G/A	snv			2
rs1249437161	CACNA1F	1.000	0.080	X	49217915	missense variant	C/T	snv			1
rs141010716	CACNA1F	1.000	0.080	X	49224768	missense variant	C/T	snv	2.1E-03	2.2E-03	1
rs34162630	CACNA1F	1.000	0.080	X	49226037	missense variant	C/T	snv	1.7E-02	1.8E-02	1
rs782581701	CACNA1F	1.000	0.080	X	49210604	stop gained	G/A	snv			1