DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs746242380	CCDC103 ; FAM187A	1.000	0.080	17	44902646	frameshift variant	AGAG/-;AG;AGAGAG	delins	1.6E-05	2.8E-05	4