DisGeNET - a database of gene-disease associations

List of associated variants

Hypouricemia, C0221333

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
rs121907892	SLC22A12	0.807	0.240	11	64593747	stop gained	G/A;C	snv	2.8E-04		8
rs121907896	SLC22A12	0.851	0.200	11	64591825	missense variant	G/A	snv	1.8E-04	8.4E-05	5
rs1451506414	SLC22A12	0.882	0.200	11	64598561	synonymous variant	G/A	snv			4
rs763684449	SLC22A12	0.925	0.200	11	64600799	missense variant	C/A;T	snv	9.4E-05		3
rs121908321	SLC2A9	0.925	0.200	4	9890687	missense variant	G/A;T	snv	2.1E-04; 8.0E-06		3
rs753482595	SLC2A9	0.925	0.200	4	9920389	missense variant	T/C	snv	8.0E-06	1.4E-05	3
rs773677616	SLC22A12	1.000	0.200	11	64600770	missense variant	G/A;C;T	snv	4.9E-05		2
rs121908322	SLC2A9	1.000	0.160	4	9980681	missense variant	G/A	snv	3.2E-05	2.1E-05	2