DisGeNET - a database of gene-disease associations

List of shared variants

Congenital adrenal hyperplasia, C0001627

Disease: Deficiency of steroid 21-monooxygenase

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
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs9378251	CYP21A2	0.776	0.320	6	32038514	missense variant	C/T	snv	9.2E-05	5.4E-04	8
rs6475	CYP21A2	0.807	0.320	6	32039426	missense variant	T/A	snv	4.8E-04	1.2E-03	7
rs776989258	CYP21A2 ; TNXB	0.807	0.280	6	32041093	missense variant	C/G;T	snv	5.5E-04		6
rs6445	TNXB ; CYP21A2	0.827	0.240	6	32041006	missense variant	C/T	snv	4.6E-03	5.2E-03	5
rs7755898	CYP21A2	0.827	0.240	6	32040421	stop gained	C/T	snv		3.6E-03	5
rs200005406	CYP21A2 ; TNXB	0.851	0.200	6	32041097	missense variant	G/A;C	snv	8.8E-06; 3.3E-04		4
rs200737258	AR	0.882	0.240	X	67711476	missense variant	G/A	snv	2.1E-03	1.1E-03	4