DisGeNET - a database of gene-disease associations

List of associated variants

Night blindness, congenital stationary, C0339535

Source: CLINVAR ×

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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
rs80338903	USH2A	0.701	0.360	1	216247095	frameshift variant	C/-	del	7.6E-04	5.4E-04	25
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
rs1557110499	CACNA1F	0.925	0.080	X	49228311	inframe deletion	AAG/-	delins			2
rs770066665	GPR179	0.925	0.080	17	38337640	frameshift variant	G/-	delins	5.1E-04	4.8E-04	2
rs62638197	GRM6	0.925	0.080	5	178994808	missense variant	G/A	snv		9.2E-05	2
rs1485132228	LOC105370752 ; TRPM1	0.925	0.080	15	31035551	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs1553186509	ABCA4	1.000	0.080	1	94001914	missense variant	T/C	snv			1
rs61751398	ABCA4	0.925	0.080	1	94042830	stop gained	C/A;T	snv	1.2E-05	1.4E-05	1
rs122456133	CACNA1F	0.882	0.080	X	49228048	missense variant	C/T	snv			1
rs1557106008	CACNA1F	1.000	0.080	X	49210636	missense variant	G/A	snv			1
rs1557107192	CACNA1F	1.000	0.080	X	49215471	frameshift variant	TG/-	del			1
rs1557107417	CACNA1F	1.000	0.080	X	49216438	missense variant	A/C	snv			1
rs1557108147	CACNA1F	1.000	0.080	X	49218881	splice donor variant	C/T	snv			1
rs1557109796	CACNA1F	1.000	0.080	X	49226051	frameshift variant	TCGGC/-	delins			1
rs1557109912	CACNA1F	1.000	0.080	X	49226402	splice donor variant	CTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCC/-	delins			1
rs1557110046	CACNA1F	1.000	0.080	X	49226673	frameshift variant	-/A	ins			1
rs1557110192	CACNA1F	1.000	0.080	X	49227028	frameshift variant	G/-	del			1
rs1557110988	CACNA1F	1.000	0.080	X	49230253	stop gained	G/A	snv			1
rs104893740	GNAT1	0.925	0.080	3	50193139	missense variant	G/A	snv	4.0E-06		1
rs786205853	GNAT1	0.925	0.080	3	50194111	missense variant	C/G	snv			1
rs1200683561	GPR179	1.000	0.080	17	38330861	frameshift variant	-/TG	delins			1
rs281875234	GPR179	0.925	0.080	17	38334016	missense variant	G/A	snv			1
rs794726685	GPR179	0.925	0.080	17	38343512	frameshift variant	G/-;GG	delins			1
rs886043488	GPR179	1.000	0.080	17	38339517	stop gained	ACCTG/GTAGATCA	delins			1