DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Alcoholic Intoxication, Chronic ×

Variants associated to the Gene: ADH1B ×

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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
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		27
rs1789882	ADH1B	1.000	0.080	4	99313896	synonymous variant	A/G;T	snv	0.82		4
rs1154433	ADH1B	1.000	0.080	4	99332551	intron variant	A/G;T	snv			3
rs1693457	ADH1B	1.000	0.080	4	99315605	non coding transcript exon variant	C/T	snv		0.81	3
rs1789891	ADH1B	1.000	0.080	4	99329262	intron variant	C/A	snv		0.13	3
rs2066702	ADH1B	0.882	0.080	4	99307860	missense variant	G/A	snv	1.5E-02	5.9E-02	3
rs2075633	ADH1B	1.000	0.080	4	99317841	non coding transcript exon variant	T/C	snv		0.24	3
rs2173201	ADH1B	1.000	0.080	4	99329813	intron variant	C/A	snv		0.30	3
rs1612735	ADH1B ; ADH1C	1.000	0.080	4	99336850	intron variant	T/C	snv		0.31	3
rs1614972	ADH1B ; ADH1C	0.925	0.160	4	99336998	intron variant	C/T	snv		0.38	3
rs12639833	ADH1C ; ADH1B	1.000	0.080	4	99346215	intron variant	C/T	snv		0.31	3
rs2241894	ADH1C ; ADH1B	1.000	0.080	4	99344976	synonymous variant	T/A;C	snv	4.0E-06; 0.30		3