DisGeNET - a database of gene-disease associations

List of associated variants

Retinopathy of Prematurity, C0035344

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs1799963	F2	0.695	0.400	11	46739505	3 prime UTR variant	G/A	snv		9.6E-03	25
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs2049046	BDNF	0.827	0.200	11	27702228	intron variant	T/A	snv		0.48	6
rs61735304	FZD4 ; FZD4-DT	0.882	0.080	11	86954989	missense variant	G/A	snv	1.7E-02	1.3E-02	3
rs7934165	BDNF	0.925	0.160	11	27710436	intron variant	G/A	snv		0.49	2
rs104894223	FZD4 ; PRSS23	0.925	0.080	11	86951990	missense variant	T/C	snv	5.1E-04	5.2E-04	2
rs1064795738	TUBA1A	0.925	0.120	12	49185651	missense variant	T/G	snv			2
rs61735303	FZD4 ; PRSS23	1.000	0.080	11	86952254	missense variant	G/A	snv	1.8E-02	1.4E-02	1
rs61749246	FZD4 ; PRSS23	1.000	0.080	11	86951140	3 prime UTR variant	C/A	snv	2.1E-02	1.9E-02	1