DisGeNET - a database of gene-disease associations

List of associated variants

Microphthalmos, C0026010

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
rs869025221	RARB	0.925	0.080	3	25593603	missense variant	G/C	snv			5
rs121912543	VSX2	0.851	0.080	14	74259621	missense variant	G/A;C	snv			4
rs200671094	BMP4	0.851	0.080	14	53950508	missense variant	G/A;T	snv	1.2E-04; 4.0E-06		4
rs1329285216	FFAR4 ; RBP4	0.925	0.080	10	93593997	missense variant	A/T	snv			2
rs377669670	LINC01389 ; FOXE3	0.925	0.080	1	47416547	missense variant	G/A	snv	3.6E-05	6.4E-05	2
rs387907095	PRSS56	0.925	0.080	2	232523492	missense variant	G/C	snv			2
rs552445199	TMX3	0.925	0.080	18	68711389	missense variant	C/T	snv	2.9E-05	1.4E-05	2
rs587777690	TMEM98	0.925	0.080	17	32940889	missense variant	G/C;T	snv	4.0E-06		2
rs755377651	FOXE3 ; LINC01389	0.925	0.080	1	47416625	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		2
rs755799430	VSX2	0.925	0.080	14	74259689	missense variant	G/A	snv	8.0E-06	1.4E-05	2
rs80358194	FOXE3 ; LINC01389	0.925	0.080	1	47417035	stop gained	C/A	snv	1.6E-04		2
rs869312733	TMEM98	0.925	0.080	17	32940899	missense variant	A/C	snv			2
rs1475762618	WNT7B	1.000	0.080	22	45923167	missense variant	G/A	snv			1
rs374823079	MFRP ; C1QTNF5	1.000	0.080	11	119341673	missense variant	G/A	snv	8.5E-05	3.5E-05	1
rs869025268	VSX2	1.000	0.080	14	74239626	frameshift variant	-/G	delins	1.3E-05		1
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv			9
rs370866589	SMOC1	0.851	0.120	14	69952261	stop gained	C/G;T	snv	4.0E-06; 1.6E-05		7
rs193929392	ARHGAP6 ; HCCS	0.851	0.120	X	11118574	missense variant	G/A	snv			4
rs875989805	NHS	0.925	0.120	X	17687870	stop gained	C/T	snv			4
rs1028344225	RARB	0.925	0.120	3	25596566	missense variant	C/T	snv			3
rs1569119395	WNT7B	0.925	0.120	22	45949926	stop gained	G/A	snv			2
rs1243762658	TENM3	0.851	0.160	4	182754413	missense variant	C/A;G	snv	4.2E-06	7.0E-06	5
rs755000701	TENM3	0.851	0.160	4	182799938	missense variant	C/T	snv	9.2E-06	1.4E-05	5
rs387907252	VAX1	0.882	0.160	10	117134559	missense variant	G/T	snv			3
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13