DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: WNK1 ×

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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
rs137852735	WNK1	0.882	0.160	12	868745	frameshift variant	-/A	delins			3
rs10774463	WNK1			12	792399	intron variant	G/A;C	snv			2
rs111033590	WNK1	0.925	0.080	12	868772	stop gained	C/T	snv	2.0E-05		2
rs111033591	WNK1	0.925	0.160	12	868697	stop gained	C/T	snv	1.6E-05	2.1E-05	2
rs12828016	WNK1			12	889199	missense variant	G/T	snv	0.37	0.41	2
rs563691424	WNK1	1.000	0.080	12	753860	missense variant	C/T	snv	6.2E-05	2.1E-05	2
rs7953330	WNK1	0.925	0.080	12	889653	intron variant	G/C	snv		0.28	2
rs11064560	WNK1			12	834787	intron variant	G/T	snv		0.63	1
rs111033592	WNK1	1.000	0.080	12	868046	stop gained	C/T	snv			1
rs11554421	WNK1			12	753986	missense variant	G/A	snv	0.12	9.8E-02	1
rs11611246	WNK1			12	830314	intron variant	G/T	snv		0.19	1
rs11613704	WNK1			12	871759	intron variant	C/A;T	snv			1
rs11885	WNK1			12	753919	missense variant	G/A;T	snv			1
rs12301299	WNK1			12	882544	intron variant	T/C;G	snv			1
rs137852734	WNK1	1.000	0.080	12	868422	frameshift variant	A/-	delins			1
rs34880640	WNK1			12	754011	missense variant	C/T	snv	3.3E-03	1.0E-03	1
rs387906331	WNK1	1.000	0.080	12	868470	frameshift variant	G/-	del			1
rs387906332	WNK1	1.000	0.080	12	859428	frameshift variant	GA/-	delins			1
rs4619206	WNK1	1.000	0.080	12	893691	intron variant	T/C	snv		0.74	1
rs55726687	WNK1			12	882140	intron variant	G/A	snv		0.17	1
rs563030804	WNK1	1.000	0.040	12	868394	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs72650721	WNK1			12	883487	synonymous variant	G/A	snv	4.4E-04	1.7E-03	1
rs7305099	WNK1			12	866110	non coding transcript exon variant	T/A;G	snv			1
rs774207364	WNK1	1.000	0.120	12	861184	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		1
rs779099001	WNK1	1.000	0.120	12	867971	missense variant	A/G	snv	4.0E-06		1