DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Systolic Pressure ×

Variants associated to the Gene: CLCN6 ×

Results per page

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
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	5
rs17037452	CLCN6			1	11835618	intron variant	A/G	snv		0.18	3
rs6669371	CLCN6			1	11822085	intron variant	T/G	snv		0.14	3
rs202071545	CLCN6			1	11818105	intron variant	AAAA/-;AAA;AAAAA;AAAAAA	delins			2
rs55892892	CLCN6			1	11836799	intron variant	C/A	snv		4.6E-02	2
rs5068	NPPA ; NPPA-AS1 ; CLCN6	0.776	0.160	1	11845917	3 prime UTR variant	A/G;T	snv			2
rs55857306	CLCN6			1	11835738	intron variant	G/A;C	snv			1
rs12744757	CLCN6 ; NPPA-AS1 ; NPPA			1	11846764	intron variant	C/T	snv		4.1E-02	1
rs202102042	NPPA-AS1 ; CLCN6 ; NPPA	1.000		1	11847114	missense variant	C/T	snv	2.2E-04	1.6E-04	1