DisGeNET - a database of gene-disease associations

List of associated variants

Bronchopulmonary Dysplasia, C0006287

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs746682028	BDNF ; BDNF-AS	0.645	0.480	11	27658414	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		36
rs165599	ARVCF ; COMT	0.677	0.280	22	19969258	3 prime UTR variant	G/A	snv		0.56	27
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs6721961	NFE2L2	0.672	0.520	2	177265309	intron variant	T/C;G	snv		0.89	24
rs3800373	LOC101929309 ; FKBP5	0.752	0.200	6	35574699	3 prime UTR variant	C/A	snv		0.68	22
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv			21
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs2230912	P2RX7 ; LOC105370032	0.752	0.280	12	121184393	missense variant	A/G	snv	0.13	0.12	16
rs6354	SLC6A4	0.732	0.280	17	30222880	5 prime UTR variant	G/C;T	snv			16
rs174576	FADS2	0.851	0.200	11	61836038	intron variant	C/A;T	snv			14
rs2251219	SMIM4 ; PBRM1	0.732	0.120	3	52550771	synonymous variant	T/C;G	snv	0.39; 4.0E-06	0.34	14
rs10994336	ANK3	0.776	0.160	10	60420054	intron variant	C/T	snv		7.5E-02	12