DisGeNET - a database of gene-disease associations

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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
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8