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
rs121912532	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.776	0.280	2	48688065	missense variant	C/A;G;T	snv	1.2E-05		12
rs121912535	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.827	0.240	2	48688427	missense variant	A/C	snv			6