DisGeNET - a database of gene-disease associations

List of associated variants

Conn Adenoma, C0009777

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
rs386352319	KCNJ5	0.827	0.080	11	128911724	missense variant	G/A;C	snv			8
rs387906778	KCNJ5	0.827	0.200	11	128911745	missense variant	A/G	snv			5
rs386352318	KCNJ5	0.925	0.080	11	128911776	missense variant	T/G	snv			4
rs746967306	CACNA1H	0.925	0.080	16	1218616	missense variant	T/A	snv	1.0E-04	5.1E-05	2
rs370574590	PCSK9	1.000	0.080	1	55058628	missense variant	G/A;T	snv	3.2E-05; 1.2E-05		2