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
rs377669670	LINC01389 ; FOXE3	0.925	0.080	1	47416547	missense variant	G/A	snv	3.6E-05	6.4E-05	2
rs755377651	FOXE3 ; LINC01389	0.925	0.080	1	47416625	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		2
rs80358194	FOXE3 ; LINC01389	0.925	0.080	1	47417035	stop gained	C/A	snv	1.6E-04		2
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
rs387907095	PRSS56	0.925	0.080	2	232523492	missense variant	G/C	snv			2
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs397518483	RARB	0.851	0.120	3	25596428	missense variant	C/A;T	snv			9
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs869025221	RARB	0.925	0.080	3	25593603	missense variant	G/C	snv			5
rs1028344225	RARB	0.925	0.120	3	25596566	missense variant	C/T	snv			3
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs387907252	VAX1	0.882	0.160	10	117134559	missense variant	G/T	snv			3
rs1329285216	FFAR4 ; RBP4	0.925	0.080	10	93593997	missense variant	A/T	snv			2
rs1554985722	PAX6	0.925	0.200	11	31802714	missense variant	C/G	snv			2
rs374823079	MFRP ; C1QTNF5	1.000	0.080	11	119341673	missense variant	G/A	snv	8.5E-05	3.5E-05	1
rs17563	BMP4	0.790	0.320	14	53950804	stop lost	A/G	snv	0.45	0.44	8
rs33912345	C14orf39 ; SIX6	0.807	0.200	14	60509819	missense variant	C/A;G	snv	0.53		7
rs370866589	SMOC1	0.851	0.120	14	69952261	stop gained	C/G;T	snv	4.0E-06; 1.6E-05		7
rs121912543	VSX2	0.851	0.080	14	74259621	missense variant	G/A;C	snv			4