DisGeNET - a database of gene-disease associations

List of associated variants

Myofibromatosis, C0206648

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
rs121912678	ACVR1	0.851	0.080	2	157774114	missense variant	C/G;T	snv			8
rs367543286	PDGFRB	0.851	0.080	5	150125571	missense variant	G/A	snv		7.0E-06	5
rs864309711	PDGFRB	0.827	0.120	5	150124275	missense variant	G/C;T	snv			5
rs144050370	PDGFRB	0.851	0.080	5	150124295	missense variant	G/T	snv	1.2E-05	1.4E-05	4
rs1554108211	PDGFRB	0.882	0.160	5	150124279	missense variant	A/G	snv			3
rs1554108389	PDGFRB	0.925	0.040	5	150125553	missense variant	T/C	snv			2
rs797044887	PDGFRB	0.925	0.040	5	150124277	missense variant	T/G	snv			2