DisGeNET - a database of gene-disease associations

List of associated variants

Cystic Fibrosis, C0010674

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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs61751374	ABCA4	0.776	0.160	1	94043413	missense variant	G/A	snv	1.7E-03	1.7E-03	10
rs61750120	ABCA4	0.882	0.160	1	94042767	missense variant	G/A	snv	1.2E-04	1.8E-04	4
rs7512462	SLC26A9	0.882	0.200	1	205930467	intron variant	T/C	snv		0.38	4
rs2734705	CLCA1	0.925	0.120	1	86486641	missense variant	A/G	snv	0.86	0.87	2
rs4077468	SLC26A9-AS1	0.925	0.200	1	205945629	upstream gene variant	A/G	snv		0.36	2
rs779426136	ABCA4	0.925	0.120	1	94041346	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		2
rs880633	CHI3L1	0.925	0.160	1	203183673	missense variant	T/C	snv	0.45	0.41	2
rs871799		1.000	0.120	1	203200743	intergenic variant	C/G	snv		0.18	1
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs7316	SFTPB	0.882	0.160	2	85658890	3 prime UTR variant	T/C	snv		0.14	3
rs1143639	IL1B	1.000	0.120	2	112831216	non coding transcript exon variant	C/T	snv		0.20	2
rs2077079	SFTPB	0.925	0.120	2	85668215	missense variant	T/G	snv	0.41	0.39	2
rs3024798	SFTPB	1.000	0.120	2	85667185	splice region variant	G/A;T	snv	0.36		1
rs2688482	MUC4	1.000	0.120	3	195802247	intron variant	T/C	snv		0.66	1
rs3103933	MUC4	1.000	0.120	3	195758569	intron variant	A/G;T	snv			1
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs5743618	TLR1	0.677	0.360	4	38797027	missense variant	C/A	snv	0.53	0.51	25
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6