DisGeNET - a database of gene-disease associations

List of shared variants

HOLOPROSENCEPHALY 3, C1840529

Disease: HOLOPROSENCEPHALY 2 (disorder)

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