DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: IRF2BPL ×

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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
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12
rs1555377234	IRF2BPL	1.000		14	77025641	frameshift variant	A/-	delins			3
rs1292724234	IRF2BPL ; LOC107984638	1.000		14	77027414	stop gained	G/A;T	snv			1
rs1566786207	IRF2BPL ; LOC107984638	1.000		14	77026831	frameshift variant	G/-	del			1
rs1555377336	IRF2BPL ; LOC107984638	1.000		14	77026678	missense variant	G/C	snv			1
rs1555377483	IRF2BPL ; LOC107984638	1.000		14	77027417	stop gained	G/A	snv			1
rs201073695	LOC107984638 ; IRF2BPL	1.000		14	77026539	missense variant	C/G;T	snv	3.6E-05	1.4E-05	1