DisGeNET - a database of gene-disease associations

List of associated variants

alpha 1-Antitrypsin Deficiency, C0221757

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs121912713	SERPINA1	0.851	0.200	14	94378561	missense variant	A/C	snv			5
rs2217332	HERPUD1	0.882	0.160	16	56935236	missense variant	G/A	snv	0.15	0.14	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
rs1057516212	SERPINA1	0.925	0.160	14	94382947	frameshift variant	AGTG/-	delins			3
rs11558261	SERPINA1	0.882	0.160	14	94382823	missense variant	C/T	snv	9.1E-05	3.5E-05	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
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
rs751235320	SERPINA1	0.882	0.160	14	94382591	splice donor variant	C/A	snv	4.0E-06	1.4E-05	3
rs756773408	SERPINA1	0.882	0.160	14	94382592	missense variant	C/A	snv	2.0E-05	2.8E-05	3
rs764325655	SERPINA1	0.882	0.160	14	94378548	frameshift variant	G/-;GG	delins		4.2E-05	3