DisGeNET - a database of gene-disease associations

List of associated variants

21-hydroxylase deficiency, C0852654

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
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs1057868	POR	0.763	0.320	7	75985688	missense variant	C/T	snv	0.31	0.27	9
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
rs768768839	POMC	0.807	0.280	2	25161679	missense variant	G/A	snv	5.6E-06		6
rs7755898	CYP21A2	0.827	0.240	6	32040421	stop gained	C/T	snv		3.6E-03	5
rs905880501	HSD3B2	0.827	0.200	1	119422501	stop gained	C/T	snv			5
rs6445	TNXB ; CYP21A2	0.827	0.240	6	32041006	missense variant	C/T	snv	4.6E-03	5.2E-03	5
rs200005406	CYP21A2 ; TNXB	0.851	0.200	6	32041097	missense variant	G/A;C	snv	8.8E-06; 3.3E-04		4
rs1030467767	CYP21A2	0.882	0.200	6	32038538	missense variant	A/C;T	snv	8.6E-06		3
rs151344505	CYP21A2	0.882	0.240	6	32040179	missense variant	G/A	snv	1.1E-04	9.8E-05	3
rs267606757	CYP21A2	0.882	0.200	6	32039162	missense variant	A/C	snv			3
rs547552654	CYP21A2	0.882	0.200	6	32039165	missense variant	A/C	snv			3
rs550051210	CYP21A2	0.882	0.200	6	32039118	missense variant	C/A;T	snv	7.0E-05		3
rs7769409	CYP21A2	0.882	0.200	6	32040535	missense variant	C/T	snv		7.0E-05	3
rs9378252	CYP21A2	0.882	0.200	6	32038610	missense variant	A/G;T	snv	4.4E-02		3
rs397509367	CYP21A2 ; TNXB	0.882	0.200	6	32041097	frameshift variant	GG/C	delins			3
rs72552758	TNXB ; CYP21A2	0.882	0.200	6	32040919	missense variant	G/A	snv	1.5E-05	3.5E-05	3
rs779791105	TNXB ; CYP21A2	0.882	0.200	6	32041092	frameshift variant	-/C	delins	4.5E-06		3
rs1205703563	TXNRD1	0.882	0.200	12	104315829	frameshift variant	T/-	del	8.0E-06	7.0E-06	3
rs12530380	CYP21A2	1.000		6	32039810	missense variant	T/A	snv		1.4E-05	1