DisGeNET - a database of gene-disease associations

List of associated variants

Acute Chest Syndrome, C0742343

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
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
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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs10507391	ALOX5AP	0.776	0.320	13	30737959	intron variant	A/T	snv		0.52	10
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs10811656	CDKN2B-AS1	0.807	0.200	9	22124473	intron variant	C/T	snv		0.47	7
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs11086998	CD40	1.000	0.120	20	46128885	missense variant	C/G;T	snv	2.2E-02		1
rs11573156	PLA2G2A	0.882	0.240	1	19979653	5 prime UTR variant	G/C	snv		0.19	5
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs1187513719	CYP2C19	0.851	0.200	10	94780595	missense variant	A/G	snv	4.0E-06		4
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs1208732776	THPO ; CHRD	1.000	0.120	3	184378252	missense variant	G/A	snv		7.0E-06	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs1234314	TNFSF4	0.790	0.320	1	173208253	upstream gene variant	C/A;G	snv			7
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs12566888	PEAR1	0.807	0.280	1	156899255	intron variant	G/T	snv		0.26	7
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs12766939	CUBN	0.925	0.160	10	17031136	intron variant	A/G	snv		0.23	2
rs1333047	CDKN2B-AS1	0.790	0.240	9	22124505	intron variant	A/T	snv		0.63	9
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60