DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Coproporphyria, C0162531

Source: ALL

Results per page

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
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs121917868	CPOX	0.882	0.160	3	98581474	missense variant	T/C	snv	4.0E-05	8.4E-05	3
rs121917866	CPOX	0.925	0.160	3	98585622	missense variant	G/A	snv	4.0E-06		2
rs121917870	CPOX	0.925	0.160	3	98588783	missense variant	G/A;C	snv			2
rs121917872	CPOX	0.925	0.160	3	98591089	missense variant	G/A	snv			2
rs121917873	CPOX	0.925	0.160	3	98585631	missense variant	G/A	snv		7.0E-06	2
rs121917874	CPOX	0.925	0.160	3	98588831	missense variant	C/G	snv			2
rs28931603	CPOX	0.925	0.160	3	98580709	missense variant	G/A	snv	4.0E-04	2.7E-04	2
rs1374394802	CPOX	1.000	0.160	3	98591111	missense variant	C/T	snv	1.2E-05	2.8E-05	1
rs201826432	CPOX	1.000	0.160	3	98593101	missense variant	A/G	snv	4.0E-06	2.1E-05	1
rs759347283	CPOX	1.000	0.160	3	98591147	missense variant	C/T	snv	8.0E-06	2.1E-05	1