DisGeNET - a database of gene-disease associations

List of associated variants

11-Beta-hydroxylase deficiency, C3669121

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
rs28934586	GML ; CYP11B1	0.827	0.200	8	142875012	missense variant	C/T	snv	2.4E-05	2.1E-05	5
rs387907572	CYP11B1 ; GML	0.851	0.240	8	142876278	missense variant	G/A	snv		7.0E-06	4
rs1447069098	CYP11B1 ; GML	0.882	0.240	8	142874997	missense variant	C/T	snv	4.0E-06		3
rs146124466	CYP11B1 ; GML	0.882	0.200	8	142875767	stop gained	G/A	snv	5.6E-05	3.1E-04	3
rs61758594	CYP11B2	0.882	0.200	8	142917654	missense variant	G/C	snv		7.0E-06	3
rs5282	GML ; CYP11B1	0.882	0.200	8	142879627	missense variant	C/G	snv	2.4E-05	1.4E-05	3
rs1245981952	CYP11B1 ; GML	0.925	0.200	8	142879623	missense variant	A/G	snv	4.0E-06		2
rs149881706	CYP11B1 ; GML	0.925	0.200	8	142875838	missense variant	C/T	snv	4.0E-05	2.8E-05	2
rs1206627543	CYP11B2 ; GML	0.925	0.200	8	142912592	missense variant	C/T	snv	4.0E-06		2
rs1311444460	CYP11B2 ; GML	0.925	0.200	8	142912585	missense variant	C/T	snv	1.2E-05	7.0E-06	2
rs568758408	CYP21A2	0.925	0.200	6	32040183	missense variant	T/C	snv	4.1E-06		2
rs140336749	GML ; CYP11B1	0.925	0.200	8	142877191	missense variant	G/A	snv	1.6E-04	3.5E-05	2
rs387907573	GML ; CYP11B1	0.925	0.200	8	142876299	missense variant	A/G;T	snv	4.0E-06		2
rs387907574	GML ; CYP11B1	0.925	0.200	8	142876267	missense variant	C/T	snv			2
rs775479837	GML ; CYP11B1	0.925	0.200	8	142877197	stop gained	G/A	snv	8.0E-06	2.8E-05	2
rs1348178413	GML ; CYP11B2	0.925	0.200	8	142912570	missense variant	C/T	snv	8.0E-06	7.0E-06	2