DisGeNET - a database of gene-disease associations

List of associated variants

Congenital hypoplasia of adrenal gland, C0220766

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
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs387907281	ATP1A3	0.752	0.280	19	41970284	missense variant	C/T	snv			13
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv			12
rs398122887	ATP1A3	0.790	0.280	19	41967744	missense variant	C/G;T	snv			8
rs557052809	ATP1A3	0.827	0.160	19	41975629	missense variant	C/A;T	snv			5
rs1345986424	SLC2A1	0.851	0.160	1	42943291	stop gained	C/A;T	snv			4
rs536681257	ATP1A3	0.882	0.080	19	41970298	missense variant	A/C;T	snv			3
rs606231436	ATP1A3	0.882	0.080	19	41970536	missense variant	A/G	snv			3
rs782461379	ATP1A3	0.882	0.120	19	41988511	missense variant	G/A;C	snv	8.0E-06; 4.0E-06	7.0E-06	3
rs143141578	NR0B1	0.925	0.080	X	30308764	missense variant	G/C	snv	2.3E-04	3.9E-04	2
rs387907373	NR0B1	0.925	0.080	X	30304718	missense variant	C/A	snv			2