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
rs5744168	TLR5	0.701	0.480	1	223111858	stop gained	G/A	snv	5.3E-02	4.4E-02	18
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs5743618	TLR1	0.677	0.360	4	38797027	missense variant	C/A	snv	0.53	0.51	25
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs2228607	STX1A	0.925	0.160	7	73708593	synonymous variant	A/G	snv	0.51	0.53	2
rs56302516	SLC9A3	1.000	0.120	5	518319	intron variant	C/G;T	snv			1
rs4077468	SLC26A9-AS1	0.925	0.200	1	205945629	upstream gene variant	A/G	snv		0.36	2
rs7512462	SLC26A9	0.882	0.200	1	205930467	intron variant	T/C	snv		0.38	4
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14
rs1124	SFTPC ; BMP1	0.882	0.160	8	22164004	missense variant	G/A	snv	0.30	0.26	3
rs7316	SFTPB	0.882	0.160	2	85658890	3 prime UTR variant	T/C	snv		0.14	3
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
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
rs4253527	SFTPA1	1.000	0.120	10	79614021	missense variant	C/A;T	snv	0.10		1
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs5736	SCNN1G	1.000	0.120	16	23189600	missense variant	G/A	snv	4.1E-03	1.2E-02	1
rs5742912	SCNN1A ; LOC107984500	0.925	0.160	12	6349184	missense variant	A/G	snv	1.9E-02	1.7E-02	3
rs35169799	PLCB3	0.925	0.200	11	64263769	missense variant	C/T	snv	4.9E-02	4.5E-02	5
rs58598099	PKD1	0.882	0.200	16	2116917	missense variant	A/G	snv			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
rs2511241	P2RY2	1.000	0.120	11	73234296	missense variant	C/G;T	snv	4.0E-06; 0.93		1