DisGeNET - a database of gene-disease associations

List of associated variants

High altitude pulmonary edema, C0340100

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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs41423247	NR3C1	0.695	0.440	5	143399010	intron variant	G/C	snv		0.31	23
rs5522	NR3C2	0.732	0.320	4	148436323	missense variant	C/T	snv	0.88	0.89	19
rs2072472	IL1R2	0.732	0.200	2	102026557	intron variant	A/G	snv		0.24	13
rs2227956	HSPA1L	0.752	0.400	6	31810495	missense variant	G/A;C;T	snv	0.87		12
rs33388	NR3C1	0.776	0.360	5	143317730	intron variant	A/T	snv		0.53	12
rs1043618	HSPA1L ; HSPA1A	0.752	0.280	6	31815730	5 prime UTR variant	G/A;C;T	snv	0.39; 2.0E-05; 4.0E-06		10
rs2070951	NR3C2	0.776	0.320	4	148436862	splice region variant	G/A;C	snv	4.2E-06; 0.53		9
rs11896604	ACYP2	0.776	0.200	2	54252062	intron variant	C/A;G;T	snv			8
rs4851527	IL1R2	0.790	0.160	2	102005914	intron variant	A/G	snv		0.63	7
rs17045754	LOC105374610 ; ACYP2	0.790	0.280	2	54269620	intron variant	G/A;C	snv			7
rs1061581	HSPA1A ; HSPA1L	0.827	0.200	6	31816809	synonymous variant	G/A	snv			6
rs1008438	HSPA1L ; HSPA1A	0.807	0.120	6	31815431	upstream gene variant	A/C;T	snv			6
rs2297441	RTEL1-TNFRSF6B ; RTEL1 ; TNFRSF6B	0.807	0.160	20	63696229	3 prime UTR variant	G/A;C	snv			6
rs1965708	SFTPA2	0.851	0.200	10	79557289	missense variant	G/T	snv	0.22	0.25	6
rs719250	IL1R2	0.827	0.200	2	102007256	intron variant	C/T	snv		0.11	5
rs12615793	ACYP2	0.851	0.280	2	54248777	intron variant	G/A;T	snv			4
rs4539	CYP11B2 ; GML	0.925	0.080	8	142915123	missense variant	T/C	snv	0.42	0.38	4
rs10052957	NR3C1	0.851	0.160	5	143407136	non coding transcript exon variant	G/A	snv		0.28	4
rs4309	ACE	0.925	0.120	17	63482562	synonymous variant	C/T	snv	0.46	0.36	3