DisGeNET - a database of gene-disease associations

List of associated variants

Oculomelic amyoplasia, C1862472

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
rs587777450	PIEZO2	0.790	0.320	18	10671729	missense variant	C/T	snv			9
rs1555621138	PIEZO2	0.925	0.200	18	10671603	inframe deletion	TCT/-	delins			2
rs587777452	PIEZO2	0.925	0.240	18	10671633	missense variant	C/A;G;T	snv			2
rs587777076	PIEZO2	1.000	0.200	18	10784872	missense variant	T/A	snv			1
rs587777453	PIEZO2	1.000	0.200	18	10789114	missense variant	T/A;C	snv	7.0E-06		1
rs587777454	PIEZO2	1.000	0.200	18	10671571	missense variant	A/G	snv			1
rs878853135	PIEZO2	1.000	0.200	18	10671578	frameshift variant	T/-	del			1
rs878853137	PIEZO2	1.000	0.200	18	10689746	missense variant	G/A	snv			1
rs878853138	PIEZO2	1.000	0.200	18	10696257	missense variant	G/A	snv			1
rs878853139	PIEZO2	1.000	0.200	18	10696263	missense variant	G/A	snv			1
rs878853140	PIEZO2	1.000	0.200	18	10762977	missense variant	A/G	snv			1