DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Microvillus inclusion disease ×

Variants associated to the Gene: MYO5B ×

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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
rs1555793199	MYO5B ; SNHG22	0.882	0.240	18	49837750	frameshift variant	G/-	delins			4
rs1555793103	SNHG22 ; MYO5B	0.882	0.240	18	49836710	splice donor variant	C/G	snv			4
rs121908106	MYO5B	0.925	0.200	18	49936276	missense variant	G/A	snv	4.3E-06		2
rs1053713532	MYO5B	1.000	0.200	18	49992388	missense variant	C/T	snv		7.0E-06	1
rs121908103	MYO5B	1.000	0.200	18	50036982	missense variant	A/C;G	snv			1
rs121908104	MYO5B	1.000	0.200	18	49974547	stop gained	C/T	snv	1.2E-05	2.8E-05	1
rs121908105	MYO5B	1.000	0.200	18	49936289	missense variant	G/A;C;T	snv	1.7E-05; 1.3E-05; 2.2E-05		1
rs1283622290	MYO5B	1.000	0.200	18	49974369	missense variant	C/T	snv		7.0E-06	1
rs1324907355	MYO5B	1.000	0.200	18	50001365	missense variant	C/T	snv	4.0E-06	7.0E-06	1
rs1555648414	MYO5B	1.000	0.200	18	49974470	missense variant	C/T	snv			1
rs1568049625	MYO5B	1.000	0.200	18	49963032	splice acceptor variant	T/C	snv			1
rs727505394	MYO5B	1.000	0.200	18	49936250	splice donor variant	A/G;T	snv	4.7E-06		1
rs727505395	MYO5B	1.000	0.200	18	49878940	splice region variant	C/T	snv			1
rs753558336	MYO5B	1.000	0.200	18	49984718	missense variant	C/T	snv	6.8E-05	2.8E-05	1
rs762039116	MYO5B ; SNHG22	1.000	0.200	18	49839231	stop gained	C/A;T	snv	4.0E-06; 2.4E-05		1