DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Platelet mean volume determination (procedure) ×

Variants associated to the Gene: TMCC2 ×

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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
rs1172129	TMCC2			1	205275844	intron variant	T/A	snv		0.30	2
rs1172130	TMCC2			1	205275825	intron variant	G/A	snv		0.30	2
rs1668873	TMCC2			1	205266862	intron variant	G/A	snv		0.27	2
rs9660992	TMCC2			1	205280322	intron variant	A/G	snv		0.43	2
rs896322	LOC101929459 ; TMCC2			1	205240617	intron variant	A/G	snv		0.92	1