DisGeNET - a database of gene-disease associations

List of associated variants

hazardous drinking, C0683342

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
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs698	ADH1C ; ADH1B	0.724	0.240	4	99339632	missense variant	T/A;C	snv	0.35		20
rs1693482	ADH1C ; ADH1B	0.807	0.240	4	99342808	missense variant	C/T	snv	0.34	0.31	12
rs35385902	ADH1C ; ADH1B	0.807	0.240	4	99347122	missense variant	C/A;T	snv	2.0E-05; 1.1E-03		9
rs2066702	ADH1B	0.882	0.080	4	99307860	missense variant	G/A	snv	1.5E-02	5.9E-02	7
rs150495372	ADH1B	0.925	0.120	4	99313834	missense variant	C/T	snv	3.7E-04		3
rs1209809979	AKR1A1	0.925	0.120	1	45568989	missense variant	A/G	snv	4.0E-06		3
rs67420531	ADH1B ; ADH1C			4	99336772	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		1