DisGeNET - a database of gene-disease associations

List of associated variants

Asthma, C0004096

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
rs1435547	GREB1	1.000	0.080	2	11597965	missense variant	T/A;C	snv	0.98		1
rs643507	LPIN2 ; CHORDC1P4	1.000	0.080	18	2946293	non coding transcript exon variant	C/T	snv	0.96	0.92	2
rs9840993	MYLK	1.000	0.080	3	123739046	missense variant	G/A	snv	0.95	0.88	1
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2681417	CD86	1.000	0.080	3	122106350	missense variant	G/A	snv	0.92	0.86	1
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs646356	MROH7-TTC4 ; MROH7	1.000	0.080	1	54702100	missense variant	T/A	snv	0.87	0.89	1
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs1293767	OAS2	1.000	0.080	12	112987349	missense variant	C/A;G;T	snv	3.3E-05; 0.76		1
rs1549758	NOS3	0.807	0.360	7	150998638	synonymous variant	T/C	snv	0.76	0.76	7
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs6574978	LOC107984669 ; GPR65	0.925	0.080	14	88011069	synonymous variant	C/T	snv	0.75	0.72	2
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs3208007	RTEL1-TNFRSF6B ; RTEL1	1.000	0.080	20	63690935	synonymous variant	T/C;G	snv	0.74		2
rs320995	CYSLTR1	0.851	0.240	X	78272820	missense variant	G/A;C;T	snv	0.73		4
rs5743810	TLR6 ; TLR1	0.689	0.360	4	38828729	missense variant	A/G	snv	0.73	0.72	21
rs222747	TRPV1	0.827	0.240	17	3589906	missense variant	C/A;G;T	snv	0.72; 4.5E-06		8
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs1042711	ADRB2	0.827	0.120	5	148826785	5 prime UTR variant	C/A;G;T	snv	4.2E-06; 0.68		5
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1188722	OBSCN	0.925	0.240	1	228276575	missense variant	T/C	snv	0.68	0.70	2
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1295686	TH2LCRR ; IL13	0.882	0.160	5	132660151	intron variant	T/A;C	snv	0.68		7