DisGeNET - a database of gene-disease associations

List of associated variants

Schinzel-Giedion syndrome, C0265227

Source: UNIPROT ×

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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
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			4
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			4
rs267607038	SETBP1	0.882	0.320	18	44951952	missense variant	T/C;G	snv	8.0E-06		2
rs267607039	SETBP1	1.000	0.240	18	44951949	missense variant	G/A	snv			1
rs267607041	SETBP1	1.000	0.240	18	44951943	missense variant	A/C	snv			1