DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: MAK ×

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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
rs387906646	MAK ; TMEM14B	1.000		6	10808913	missense variant	T/G	snv			1
rs750559316	MAK ; TMEM14B	1.000		6	10803841	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs754916169	TMEM14B ; MAK	1.000		6	10830570	missense variant	C/G;T	snv	2.4E-05; 2.4E-05		1
rs387906647	TMEM14B ; MAK	1.000		6	10830612	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		1
rs387906648	TMEM14B ; MAK	0.925	0.080	6	10803886	missense variant	C/T	snv		2.1E-05	1