DisGeNET - a database of gene-disease associations

List of associated variants

46,XY SEX REVERSAL 6, C3151064

Source: UNIPROT ×

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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
rs143853590	MAP3K1	1.000		5	56875191	missense variant	G/A;C;T	snv	6.1E-04; 1.6E-05; 2.4E-05		1
rs387906788	MAP3K1	1.000		5	56856683	missense variant	T/A;C;G	snv			1