DisGeNET - a database of gene-disease associations

Disease: Low set ears

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18