DisGeNET - a database of gene-disease associations

List of associated variants

Microcornea, C0266544

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
rs387906692	FAM20A ; PRKAR1A	0.752	0.480	17	68530405	stop gained	C/T	snv			11
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs121917736	MAF ; LOC101928230	0.851	0.200	16	79599013	missense variant	T/C	snv			4
rs786205221	MAF ; LOC101928230	0.851	0.200	16	79599008	missense variant	G/T	snv			4
rs397515625	CRYAA ; LOC107987300	0.882	0.200	21	43169160	missense variant	C/A;T	snv	4.0E-06		3
rs121917735	LOC101928230 ; MAF	0.882	0.080	16	79599040	missense variant	C/G;T	snv	4.1E-06		3
rs142869513	CRYBA4	0.925	0.200	22	26623327	stop gained	C/G;T	snv	4.0E-06; 2.4E-05		2
rs80358205	LOC105371229 ; GJA8	0.925	0.080	1	147908548	missense variant	G/A	snv			2
rs143349894	LOC107987300 ; CRYAA	0.925	0.200	21	43172168	missense variant	G/C	snv	4.0E-06		2