DisGeNET - a database of gene-disease associations

List of associated variants

Apparent mineralocorticoid excess, C3887949

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
rs768507002	HSD11B2	0.925	0.080	16	67436034	missense variant	C/T	snv	4.0E-06		2
rs1168255303	HSD11B2	1.000	0.080	16	67431469	missense variant	G/A;T	snv	8.0E-05		1
rs121917780	HSD11B2	1.000	0.080	16	67436100	missense variant	C/T	snv	8.0E-06		1
rs121917781	HSD11B2	1.000	0.080	16	67436794	missense variant	C/A;T	snv	1.6E-05		1
rs121917833	HSD11B2	1.000	0.080	16	67436251	missense variant	G/A	snv	4.8E-05	1.4E-05	1
rs1309642469	HSD11B2	1.000	0.080	16	67436294	missense variant	C/T	snv	4.0E-06		1
rs1453036708	HSD11B2	1.000	0.080	16	67436768	missense variant	C/T	snv	4.0E-06		1
rs28934591	HSD11B2	1.000	0.080	16	67436115	missense variant	C/A;T	snv			1
rs28934592	HSD11B2	1.000	0.080	16	67436101	missense variant	G/A	snv	1.6E-05	1.4E-05	1
rs28934594	HSD11B2	1.000	0.080	16	67436620	missense variant	C/T	snv			1
rs376023420	HSD11B2	1.000	0.080	16	67436156	intron variant	C/A;G;T	snv	1.6E-05; 9.3E-05; 1.1E-04		1
rs387907117	HSD11B2	1.000	0.080	16	67436797	missense variant	T/C	snv	4.0E-06		1
rs397509434	HSD11B2	1.000	0.080	16	67436795	inframe deletion	GCT/-	del		1.4E-05	1
rs794726670	HSD11B2	1.000	0.080	16	67436678	inframe deletion	TAC/-	delins			1
rs794726684	HSD11B2	1.000	0.080	16	67431325	frameshift variant	CA/-	del			1