DisGeNET - a database of gene-disease associations

List of associated variants

Photophobia, C0085636

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
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs104893620	CNGA3	0.851	0.120	2	98395999	missense variant	C/T	snv	9.5E-05	7.0E-05	6
rs1558811557	CNGA3	0.851	0.120	2	98377710	frameshift variant	-/TCAGTGCTGCAGCCGGGGATCG	delins			5
rs122468178	MBTPS2	0.851	0.320	X	21880921	missense variant	G/A	snv			5
rs267607077	SNRNP200	0.882	0.080	2	96287968	missense variant	G/A	snv	4.0E-06		4