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
rs5952223		1.000	0.120	X	116255308	intergenic variant	C/T	snv		0.29	1
rs7879546		1.000	0.120	X	116217020	intergenic variant	T/C	snv			1
rs1078761	BPIFB1	1.000	0.120	20	33288875	missense variant	A/C;G	snv	4.1E-06; 0.30		2
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv			32
rs373533	ADGRE1 ; LOC105372256	0.925	0.160	19	6919613	missense variant	A/C	snv	0.77	0.73	2
rs80357113	BRCA1	0.925	0.200	17	43094281	missense variant	T/C	snv			2
rs58598099	PKD1	0.882	0.200	16	2116917	missense variant	A/G	snv			3
rs504348	LOC107984869 ; ABCC1	1.000	0.120	16	15949317	upstream gene variant	C/G;T	snv			1
rs5736	SCNN1G	1.000	0.120	16	23189600	missense variant	G/A	snv	4.1E-03	1.2E-02	1
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs5742912	SCNN1A ; LOC107984500	0.925	0.160	12	6349184	missense variant	A/G	snv	1.9E-02	1.7E-02	3
rs9300298	ADIPOR2	1.000	0.120	12	1757038	intron variant	T/A	snv		0.55	1
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
rs12793173	LOC102723568	0.925	0.160	11	34812657	intergenic variant	T/C	snv		0.18	2
rs7929679	LOC102723568	0.925	0.120	11	34784302	regulatory region variant	A/G	snv		0.54	2
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
rs3741156	P2RY2	1.000	0.120	11	73235095	missense variant	G/A;C	snv	0.29	0.20	1
rs546131	LOC102723568	1.000	0.120	11	34830213	regulatory region variant	G/C	snv		0.58	1
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14