DisGeNET - a database of gene-disease associations

List of associated variants

Pulmonary Emphysema, C0034067

Source: CURATED ×

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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
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		23
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	11
rs8034191	HYKK	0.695	0.440	15	78513681	intron variant	T/C	snv		0.27	8
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	8
rs8040868	CHRNA3	0.742	0.240	15	78618839	synonymous variant	T/C	snv	0.35	0.37	7
rs7671167	FAM13A	0.925	0.040	4	88962828	intron variant	C/T	snv		0.53	6
rs13118928		0.925	0.040	4	144565237	intron variant	A/G	snv		0.33	5
rs1980057		1.000	0.040	4	144564586	intron variant	C/T	snv		0.31	5
rs31489	CLPTM1L	0.763	0.320	5	1342599	intron variant	C/A	snv		0.41	5
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
rs121912713	SERPINA1	0.851	0.200	14	94378561	missense variant	A/C	snv			3
rs1457464431	SERPINA1	0.882	0.160	14	94383069	missense variant	A/G	snv			3
rs1555367891	SERPINA1	0.882	0.160	14	94378633	missense variant	T/C	snv			3
rs1555367892	SERPINA1	0.882	0.160	14	94378633	frameshift variant	TG/-	del			3
rs1555367896	SERPINA1	0.882	0.160	14	94378640	splice donor variant	GGAGGGGAGAGAAGCAGAGACACGTTGTAAGGCTGATCCCAGGCCTCGAGCAAGGCTCACGTGGACACCTCCCAGGAAGCGCTCACTCCCCCTGGACGGCCCTGGCCCTGCACATCCTCTCCCTCCCTGTCACATAGGCCTTGCTCCTCCTCAAGGCTTTGGCTGATGGGGCTGGCTCCCCTCTGTCCATCTTCCTGACAAGCGCCTCTCCCCCTGCTCAGGTGCACCCACAACTCAGAACAGGGAAGAGCATCGTCACTCCACGTCTGCCTCCAGGGCTCTCTCCTTTCTAGTACACGGCTTGAAGCTCCTTGAGGACACGGACCCTGGCAGTGACCTTCACAGTGCCCAGACCCCAAGATAATGCAGCCATTCATGGAACTGCAGTTGTTCATTGGTCGCCTTTAGTTTTCCAAAATAAGTGTCATCTTTAGCTGAAATCATTCATTAATTCAGACACCAAATCTCACAGATCGAAGGAGTCAGAAATTCCTTTGAAACAACTTAGCCCAAACCTTTCTGTGTCAGTATGGATAAATCAAGGCCCAATGTCTAGAAGGTCTTGGGCAAAGTTGAAATTCAGGGTCAGTGACACAACCTCAAGGGAGGCCCCGAAAGTGCCAGCTGCACAGCAGTCCCCTGCCTGGCTTTGCTGTTTGACCACGTCCCGTGTCAGTGAATCACGGGCATCTTCAGGAGCTCAGCCTGGGTCTTCATTTGTTTCCCTCGGCCCCTTCCTCAGCCTCAGGACAGAGCTGCAGCCCCCACACATTCTTCCCTACAGATACCAGGGTGCAACAAGGTCGTCAGGGTGATCTCACCT/-	delins			3
rs1555369172	SERPINA1	0.882	0.160	14	94383011	missense variant	A/G	snv			3
rs1555369299	SERPINA1	0.882	0.160	14	94383237	start lost	T/-	delins			3
rs199422211	SERPINA1	0.882	0.160	14	94381067	stop gained	T/A	snv	1.6E-05	7.0E-06	3
rs267606950	SERPINA1	0.882	0.160	14	94382686	frameshift variant	G/-	del		1.4E-05	3
rs28931568	SERPINA1	0.882	0.160	14	94382966	missense variant	C/T	snv			3
rs28931569	SERPINA1	0.882	0.160	14	94383044	missense variant	A/G	snv	4.4E-05	3.5E-05	3
rs28931570	SERPINA1	0.882	0.160	14	94383051	missense variant	G/A	snv	1.1E-03	1.5E-03	3