DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Cerebrooculofacioskeletal Syndrome 1 ×

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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
rs121913023	ERCC2	0.851	0.400	19	45352511	missense variant	C/T	snv	2.0E-05	1.4E-05	2
rs121913024	ERCC2	0.851	0.400	19	45352802	missense variant	G/A	snv	5.6E-05	3.5E-05	2
rs121913028	ERCC1	0.851	0.400	19	45414870	missense variant	G/A;C	snv	1.2E-05; 1.6E-05		1
rs121913019	ERCC2	0.925	0.240	19	45354774	missense variant	T/C;G	snv	4.0E-06		1
rs121913025	ERCC2	0.925	0.240	19	45357295	missense variant	A/G	snv			1
rs121917905	ERCC6	1.000	0.160	10	49471085	missense variant	A/C;G	snv			1
rs1554788393	ERCC6	0.882	0.240	10	49482818	missense variant	T/C	snv			1