DisGeNET - a database of gene-disease associations

Disease: Brachydactyly

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
rs886039795	TMEM256-PLSCR3 ; TMEM256	0.851	0.160	17	7403143	frameshift variant	CACTCAGAGCCTGGTAGTAAAA/-	del			10