DisGeNET - a database of gene-disease associations

List of associated variants

Hypoxic-Ischemic Encephalopathy, C0752304

Source: ALL

Results per page

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
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1001179	CAT	0.641	0.680	11	34438684	upstream gene variant	C/T	snv		0.16	33
rs1800779	NOS3	0.763	0.320	7	150992855	intron variant	G/A;C	snv			9
rs1800783	NOS3	0.827	0.280	7	150992309	intron variant	A/C;G;T	snv			7
rs2067853	AGT	0.851	0.160	1	230702512	downstream gene variant	G/A	snv		0.25	5
rs9653711	LOC107985505 ; OLIG2	0.851	0.120	21	33029641	intron variant	G/A;C	snv			4
rs6517137	LOC107985505 ; OLIG2	0.882	0.120	21	33028471	3 prime UTR variant	T/C	snv		0.11	3
rs1808593	NOS3	0.925	0.080	7	151011214	intron variant	G/T	snv		0.77	3
rs1217401	AP4B1 ; AP4B1-AS1	0.925	0.080	1	113896329	missense variant	A/G	snv	0.30	0.42	2
rs1005573	OLIG2	0.925	0.080	21	33026408	5 prime UTR variant	C/T	snv		0.73	2
rs6517135	OLIG2	0.925	0.080	21	33025263	intron variant	T/C	snv		0.33	2