DisGeNET - a database of gene-disease associations

List of associated variants

Pulmonary Emphysema, C0034067

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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs8034191	HYKK	0.695	0.440	15	78513681	intron variant	T/C	snv		0.27	24
rs8040868	CHRNA3	0.742	0.240	15	78618839	synonymous variant	T/C	snv	0.35	0.37	17
rs652438	MMP12	0.716	0.400	11	102865911	missense variant	T/C;G	snv	7.1E-02; 2.5E-04		14
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs721917	SFTPD	0.752	0.360	10	79946568	missense variant	A/G	snv	0.47	0.42	14
rs31489	CLPTM1L	0.763	0.320	5	1342599	intron variant	C/A	snv		0.41	10
rs192518038	CLOCK	0.790	0.240	4	55547195	non coding transcript exon variant	C/A;G	snv			8
rs181985043	PER2	0.790	0.240	2	238262991	missense variant	G/A;T	snv	4.0E-06		8
rs374778785	RORA-AS1 ; RORA	0.790	0.240	15	60627500	intron variant	T/A	snv		4.2E-05	8
rs13118928		0.925	0.040	4	144565237	intron variant	A/G	snv		0.33	7
rs7671167	FAM13A	0.925	0.040	4	88962828	intron variant	C/T	snv		0.53	7
rs1980057		1.000	0.040	4	144564586	intron variant	C/T	snv		0.31	6
rs7955866	FGF23	0.807	0.240	12	4370383	missense variant	G/A	snv	0.13	0.11	6
rs2277698	TIMP2 ; CEP295NL	0.807	0.320	17	78870935	synonymous variant	C/T	snv	0.13	0.11	6
rs121912713	SERPINA1	0.851	0.200	14	94378561	missense variant	A/C	snv			5
rs6726395	NFE2L2	0.851	0.240	2	177238501	intron variant	A/G	snv		0.52	4
rs10947233	PPT2-EGFL8 ; PPT2	0.925	0.160	6	32156647	intron variant	G/C;T	snv		3.4E-02	4
rs121912714	SERPINA1	0.882	0.160	14	94380949	missense variant	T/A	snv	4.7E-04	3.3E-04	4
rs199422209	SERPINA1	0.882	0.160	14	94378528	missense variant	G/A;C;T	snv	4.8E-05; 1.2E-05; 3.2E-05		4
rs11558261	SERPINA1	0.882	0.160	14	94382823	missense variant	C/T	snv	9.1E-05	3.5E-05	3