DisGeNET - a database of gene-disease associations

List of associated variants

HOLOPROSENCEPHALY 4 (disorder), C1840528

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
rs121917878	SIX3 ; SIX3-AS1	0.925	0.120	2	44942780	missense variant	C/G	snv			2
rs121909067	TGIF1	0.925	0.120	18	3456525	missense variant	C/G	snv			2
rs121909066	TGIF1	1.000	0.120	18	3456420	missense variant	C/G	snv	2.8E-05	4.9E-05	1
rs121909068	TGIF1	1.000	0.120	18	3457572	missense variant	A/G	snv	1.4E-04	8.4E-05	1
rs121909069	TGIF1	1.000	0.120	18	3457606	missense variant	C/T	snv	8.0E-06		1
rs121909070	TGIF1	1.000	0.120	18	3452156	stop gained	C/G	snv			1
rs1555650923	TGIF1	1.000	0.120	18	3457389	missense variant	C/T	snv			1
rs28939693	TGIF1	1.000	0.120	18	3457441	missense variant	A/G;T	snv	3.2E-04		1
rs397515500	ZIC2	1.000	0.120	13	99984961	frameshift variant	AG/-	del			1