DisGeNET - a database of gene-disease associations

List of associated variants

Slow acetylator due to N-acetyltransferase enzyme variant, C1827377

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
rs1799930	NAT2	0.716	0.400	8	18400593	missense variant	G/A	snv	0.27	0.27	17
rs1041983	NAT2	0.732	0.240	8	18400285	synonymous variant	C/T	snv	0.34	0.36	15
rs1799931	NAT2	0.742	0.320	8	18400860	missense variant	G/A	snv	5.8E-02	3.9E-02	14
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs1799929	NAT2	0.776	0.240	8	18400484	synonymous variant	C/T	snv	0.36	0.36	11
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