DisGeNET - a database of gene-disease associations

List of associated variants

HOLOPROSENCEPHALY 2 (disorder), C1834877

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
rs121917879	SIX3-AS1 ; SIX3	0.925	0.120	2	44942874	missense variant	G/C	snv			2
rs121917880	SIX3-AS1 ; SIX3	0.925	0.120	2	44942853	missense variant	T/C	snv			2
rs387906867	SIX3-AS1 ; SIX3	0.925	0.120	2	44942489	stop gained	G/T	snv			2
rs121917878	SIX3 ; SIX3-AS1	0.925	0.120	2	44942780	missense variant	C/G	snv			2
rs780942050	SIX3	1.000	0.120	2	44944651	missense variant	C/T	snv	1.6E-05	7.0E-06	1
rs121917881	SIX3-AS1 ; SIX3	1.000	0.120	2	44942310	missense variant	G/A	snv	1.0E-04	1.6E-04	1
rs137853021	SIX3-AS1 ; SIX3	1.000	0.120	2	44942443	missense variant	G/T	snv			1
rs397515502	SIX3-AS1 ; SIX3	1.000	0.120	2	44942800	frameshift variant	CCCCAGCAAG/-	del			1
rs989286015	SIX3-AS1 ; SIX3	1.000	0.120	2	44942834	missense variant	G/T	snv			1
rs1553337688	SIX3 ; SIX3-AS1	1.000	0.120	2	44942544	frameshift variant	CCTCTACCACA/-	delins			1
rs1558420022	SIX3 ; SIX3-AS1	1.000	0.120	2	44942611	stop gained	G/A	snv			1
rs397515499	ZIC2	1.000	0.120	13	99983000	frameshift variant	G/-	del			1