DisGeNET - a database of gene-disease associations

List of associated variants

Fast acetylator due to N-acetyltransferase enzyme variant, C1827820

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs56379106	NAT1	0.925		8	18222237	missense variant	C/T	snv	3.3E-03	3.7E-03	2
rs72554611	NAT1	0.925		8	18222834	missense variant	A/G	snv		2.1E-05	2
rs5030839	NAT1	1.000		8	18222606	stop gained	C/T	snv	2.4E-03	2.1E-03	1