DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs121912562	NR3C2	0.925	0.160	4	148435252	stop gained	G/A;C	snv	4.0E-06	2
rs121912565	NR3C2	0.925	0.120	4	148154589	missense variant	T/C	snv		2
rs1553535841	CUL3	1.000	0.120	2	224557750	missense variant	T/C	snv		1
rs121912563	NR3C2	1.000	0.120	4	148114132	missense variant	A/G	snv		1
rs121912564	NR3C2	1.000	0.120	4	148194825	stop gained	G/T	snv		1
rs121912566	NR3C2	1.000	0.120	4	148259978	missense variant	C/T	snv		1
rs121912567	NR3C2	1.000	0.120	4	148081363	missense variant	A/G	snv		1
rs121912568	NR3C2	1.000	0.120	4	148436373	stop gained	G/C	snv		1
rs121912569	NR3C2	1.000	0.120	4	148081460	stop gained	G/A	snv		1
rs121912570	NR3C2	1.000	0.120	4	148435553	stop gained	A/T	snv		1
rs121912571	NR3C2	1.000	0.120	4	148154899	stop gained	G/A	snv		1
rs121912572	NR3C2	1.000	0.120	4	148154892	stop gained	G/C	snv		1
rs121912573	NR3C2	1.000	0.120	4	148152526	stop gained	G/A;T	snv		1
rs121912574	NR3C2	1.000	0.120	4	148081384	missense variant	T/C	snv		1
rs1553986377	NR3C2	1.000	0.120	4	148114148	stop gained	G/A	snv		1
rs1560735659	NR3C2	1.000	0.120	4	148435729	frameshift variant	-/A	delins		1
rs1560910156	NR3C2	1.000	0.120	4	148081427	frameshift variant	-/G	delins		1
rs1560928649	NR3C2	1.000	0.120	4	148114246	missense variant	A/C	snv		1
rs1560949756	NR3C2	1.000	0.120	4	148154548	splice region variant	T/-	del		1
rs748573472	NR3C2	1.000	0.120	4	148154820	frameshift variant	G/-;GGGGGGGGGG	delins		1