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
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
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
rs779426136	ABCA4	0.925	0.120	1	94041346	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		2
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs2734705	CLCA1	0.925	0.120	1	86486641	missense variant	A/G	snv	0.86	0.87	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
rs7316	SFTPB	0.882	0.160	2	85658890	3 prime UTR variant	T/C	snv		0.14	3
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14
rs4253527	SFTPA1	1.000	0.120	10	79614021	missense variant	C/A;T	snv	0.10		1
rs1059057	SFTPA1	1.000	0.120	10	79613765	synonymous variant	A/G	snv	9.9E-02	6.4E-02	1
rs1136451	SFTPA1	1.000	0.120	10	79612325	synonymous variant	A/G	snv	0.21	0.17	1
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
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2228607	STX1A	0.925	0.160	7	73708593	synonymous variant	A/G	snv	0.51	0.53	2
rs4363087	BUD23 ; STX1A ; LOC105375350	0.925	0.160	7	73703866	3 prime UTR variant	T/C	snv	0.42	0.32	3
rs1626154	P2RY2	1.000	0.120	11	73235159	missense variant	C/A;G;T	snv	4.1E-06; 1.0E-04; 0.15		1
rs3741156	P2RY2	1.000	0.120	11	73235095	missense variant	G/A;C	snv	0.29	0.20	1
rs2511241	P2RY2	1.000	0.120	11	73234296	missense variant	C/G;T	snv	4.0E-06; 0.93		1
rs373533	ADGRE1 ; LOC105372256	0.925	0.160	19	6919613	missense variant	A/C	snv	0.77	0.73	2
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs35169799	PLCB3	0.925	0.200	11	64263769	missense variant	C/T	snv	4.9E-02	4.5E-02	5