DisGeNET - a database of gene-disease associations

List of associated variants

Popliteal pterygium syndrome, C0265259

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
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs2235375	IRF6	0.807	0.400	1	209792242	intron variant	G/A;C;T	snv	3.2E-05; 0.41; 4.3E-04		7
rs28942094	IRF6	0.851	0.400	1	209801398	missense variant	G/A	snv			4
rs80338851	B3GLCT	0.882	0.320	13	31269278	splice donor variant	G/A	snv	7.0E-04	8.1E-04	3
rs121434226	IRF6	0.882	0.320	1	209796477	missense variant	G/A	snv			3
rs1553247595	IRF6	0.882	0.320	1	209788590	stop gained	G/A	snv			3
rs1553247774	IRF6	0.882	0.320	1	209790806	missense variant	C/T	snv			3
rs1553248641	IRF6	0.882	0.320	1	209801389	missense variant	G/A	snv			3
rs1558038218	IRF6	0.882	0.320	1	209788500	frameshift variant	GGTACAGCTGC/-	delins			3
rs886039388	IRF6	0.882	0.320	1	209796501	missense variant	G/A	snv			3
rs121434231	IRF6	0.925	0.320	1	209790539	missense variant	C/A	snv			2
rs387906967	IRF6	0.925	0.320	1	209801349	missense variant	A/G	snv			2
rs7552506	IRF6	0.925	0.240	1	209796557	splice region variant	G/C	snv	0.32	0.32	2
rs121434225	IRF6	1.000	0.240	1	209789669	stop gained	G/A	snv			1
rs121434227	IRF6	1.000	0.240	1	209796476	missense variant	C/A;T	snv			1
rs387906968	IRF6	1.000	0.240	1	209788553	missense variant	G/A	snv			1
rs886038202	IRF6	1.000	0.240	1	209788508	missense variant	A/G	snv			1