DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Gene: CYP21A2 ×

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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
rs11966200	SLC44A4 ; CYP21A2	0.851	0.040	6	31869289	intron variant	C/T	snv	2.9E-02	4.5E-02	1
rs660550	SLC44A4 ; CYP21A2	0.882	0.160	6	31869500	intron variant	C/A;G	snv	0.60		3
rs644827	SLC44A4 ; CYP21A2	0.882	0.160	6	31870664	missense variant	T/C	snv	0.60	0.60	3
rs494620	SLC44A4 ; CYP21A2	0.925	0.120	6	31870936	stop gained	G/A;T	snv	0.44; 4.1E-06		3
rs2242665	CYP21A2 ; SLC44A4	0.882	0.160	6	31871532	missense variant	C/T	snv	0.60	0.60	3
rs9267655	CYP21A2 ; SLC44A4	1.000	0.040	6	31873278	intron variant	G/A	snv		0.16	1
rs2736428	CYP21A2 ; SLC44A4	0.925	0.160	6	31876147	intron variant	C/T	snv	0.33	0.26	2
rs6907185	CYP21A2 ; SLC44A4	1.000	0.120	6	31876907	intron variant	A/G	snv		8.9E-02	1
rs9267658	CYP21A2 ; SLC44A4 ; EHMT2-AS1	0.882	0.240	6	31878208	intron variant	T/C	snv		0.91	3
rs605203	EHMT2-AS1 ; LOC107986588 ; CYP21A2 ; SLC44A4	1.000	0.120	6	31879235	intron variant	C/A	snv		0.77	1
rs589428	SLC44A4 ; CYP21A2 ; EHMT2 ; LOC107986588 ; EHMT2-AS1	1.000	0.120	6	31880443	non coding transcript exon variant	T/G	snv		0.77	1
rs652888	EHMT2-AS1 ; EHMT2 ; LOC107986588 ; CYP21A2	0.776	0.480	6	31883457	non coding transcript exon variant	A/G	snv	0.18	0.20	6
rs7743807	EHMT2 ; CYP21A2	1.000	0.120	6	31886766	intron variant	C/T	snv	2.9E-02	5.2E-02	1
rs486416	CYP21A2 ; EHMT2	0.925	0.160	6	31888293	intron variant	G/A	snv	0.77	0.76	2
rs535586	EHMT2 ; CYP21A2	0.882	0.160	6	31892560	splice region variant	T/A;C	snv	0.77		3
rs2243873	CYP21A2 ; EHMT2	1.000	0.080	6	31895656	non coding transcript exon variant	C/A	snv		0.61	1
rs659445	EHMT2 ; CYP21A2 ; C2	0.882	0.160	6	31896527	intron variant	G/A;C	snv	0.77	0.76	3
rs558702	C2 ; ZBTB12 ; CYP21A2	0.807	0.320	6	31902549	intron variant	G/A	snv		7.7E-02	6
rs9267665	ZBTB12 ; C2 ; CYP21A2	0.925	0.200	6	31903079	intron variant	C/T	snv		7.3E-02	2
rs9267673	C2 ; CYP21A2	0.925	0.080	6	31915902	intron variant	C/A;T	snv		0.12	4
rs644045	CYP21A2 ; C2	0.851	0.240	6	31916180	intron variant	A/G	snv		0.72	2
rs511294	CYP21A2 ; C2	1.000	0.120	6	31921092	intron variant	T/G	snv		7.4E-02	1
rs544167	CYP21A2 ; C2	0.925	0.160	6	31922381	intron variant	T/G	snv		7.3E-02	2
rs497309	CYP21A2 ; C2	0.882	0.240	6	31924707	intron variant	A/C;G	snv			1
rs498240	CYP21A2 ; C2	1.000	0.120	6	31924815	intron variant	G/A	snv		7.5E-02	1