DisGeNET - a database of gene-disease associations

List of associated variants

Pulmonary Emphysema, C0034067

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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs652438	MMP12	0.716	0.400	11	102865911	missense variant	T/C;G	snv	7.1E-02; 2.5E-04		14
rs181985043	PER2	0.790	0.240	2	238262991	missense variant	G/A;T	snv	4.0E-06		8
rs192518038	CLOCK	0.790	0.240	4	55547195	non coding transcript exon variant	C/A;G	snv			8
rs121912713	SERPINA1	0.851	0.200	14	94378561	missense variant	A/C	snv			5
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
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
rs28931568	SERPINA1	0.882	0.160	14	94382966	missense variant	C/T	snv			3
rs28931572	SERPINA1	0.882	0.160	14	94382891	missense variant	A/T	snv			3
rs55819880	SERPINA1	0.882	0.160	14	94383008	missense variant	G/A	snv	1.4E-04		3
rs729631	SERPINE2	0.882	0.040	2	223980202	non coding transcript exon variant	C/A;G	snv			3
rs76071148	CHRNA3 ; CHRNA5	0.925	0.040	15	78593232	missense variant	T/A;C	snv	2.0E-02; 1.2E-05		2
rs975278	SERPINE2	0.925	0.040	2	223982990	intron variant	T/A;C	snv			2
rs12130495	MAN1C1	1.000	0.040	1	25758907	non coding transcript exon variant	G/A;T	snv			1
rs734556		1.000	0.040	2	223696612	TF binding site variant	C/G;T	snv			1
rs199422211	SERPINA1	0.882	0.160	14	94381067	stop gained	T/A	snv	1.6E-05	7.0E-06	3
rs1435682678	PTPN6	1.000	0.040	12	6959928	missense variant	G/A	snv		7.0E-06	1
rs267606950	SERPINA1	0.882	0.160	14	94382686	frameshift variant	G/-	del		1.4E-05	3