DisGeNET - a database of gene-disease associations

List of associated variants

Forced expiratory volume function, C0016529

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
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	37
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
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23
rs12914385	CHRNA3	0.790	0.160	15	78606381	intron variant	C/A;T	snv			18
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs8040868	CHRNA3	0.742	0.240	15	78618839	synonymous variant	T/C	snv	0.35	0.37	17
rs143384	GDF5	0.827	0.200	20	35437976	5 prime UTR variant	G/A	snv		0.44	17
rs1689510	SUOX	0.724	0.240	12	56002984	non coding transcript exon variant	G/C	snv		0.25	16
rs667282	CHRNA5	0.790	0.120	15	78571130	intron variant	T/C	snv		0.28	13
rs2855812	MICB	0.790	0.360	6	31504943	intron variant	G/T	snv		0.23	13
rs2036527		0.851	0.080	15	78559273	regulatory region variant	G/A	snv		0.29	12
rs972936	IGF1 ; LINC02456	0.807	0.200	12	102431143	intron variant	T/C	snv		0.70	12
rs3791679	EFEMP1 ; LOC112268416	0.925	0.120	2	55869757	intron variant	A/G	snv		0.20	11
rs2869967	FAM13A ; LOC105377327	0.827	0.120	4	88948181	intron variant	T/C	snv		0.49	11
rs8042374	CHRNA3	0.807	0.200	15	78615690	intron variant	A/G	snv		0.29	10
rs6495309	CHRNB4 ; CHRNA3	0.807	0.080	15	78622903	upstream gene variant	C/A;T	snv			10
rs56113850	CYP2A6	0.807	0.080	19	40847202	intron variant	T/C	snv		0.52	10
rs2571445	TNS1	0.925	0.080	2	217818431	missense variant	A/G;T	snv	0.62		10
rs2857595		0.827	0.320	6	31600692	intergenic variant	G/A	snv		0.27	9
rs17486278	CHRNA5	0.827	0.120	15	78575140	intron variant	A/C	snv		0.32	9
rs2869966	LOC105377327 ; FAM13A	1.000	0.040	4	88947927	intron variant	C/T	snv		0.47	9
rs13141641		1.000	0.040	4	144585304	intron variant	T/C	snv		0.32	8