DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency ×

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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
rs760695410	WBP1L ; CYP17A1 ; CYP17A1-AS1	0.807	0.240	10	102832532	missense variant	T/A	snv	1.2E-05; 4.0E-06		6
rs104894136	CYP17A1-AS1 ; WBP1L ; CYP17A1	0.882	0.200	10	102834074	stop gained	G/A	snv			4
rs104894138	CYP17A1	0.882	0.240	10	102837076	missense variant	G/A	snv	2.8E-05	4.9E-05	3
rs104894137	CYP17A1-AS1 ; CYP17A1 ; WBP1L	0.882	0.200	10	102832626	missense variant	G/T	snv			3
rs104894142	CYP17A1 ; CYP17A1-AS1 ; WBP1L	0.882	0.200	10	102832566	missense variant	G/A	snv	4.0E-06	1.4E-05	3
rs1250463562	WBP1L ; CYP17A1-AS1 ; CYP17A1	0.925	0.200	10	102830743	missense variant	G/A	snv			2
rs104894141	CYP17A1	1.000		10	102837311	stop gained	C/T	snv			1
rs1269372676	CYP17A1-AS1 ; CYP17A1 ; WBP1L	1.000		10	102830905	missense variant	A/G	snv		7.0E-06	1