DisGeNET - a database of gene-disease associations

List of associated variants

Bile acid synthesis defect, congenital, 4, C1858328

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
rs121917814	C1QTNF3-AMACR ; AMACR	0.925	0.160	5	34007866	missense variant	A/G	snv	3.4E-04	4.8E-04	2
rs121917816	C1QTNF3-AMACR ; AMACR	1.000	0.120	5	34005827	missense variant	A/G	snv	4.0E-06		1