DisGeNET - a database of gene-disease associations

List of associated variants

Job Syndrome, C3887645

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
rs113994135	STAT3	0.925	0.120	17	42329643	missense variant	G/A	snv			3
rs113994139	STAT3	0.925	0.120	17	42322474	missense variant	C/T	snv			3
rs193922716	STAT3	0.925	0.120	17	42333719	missense variant	G/A	snv			3
rs193922721	STAT3	0.925	0.120	17	42322413	missense variant	T/C	snv			3
rs886039434	STAT3	0.925	0.120	17	42322404	missense variant	A/G	snv			3
rs193922717	STAT3	0.925	0.120	17	42329448	missense variant	C/T	snv			2
rs764262104	SRC	1.000	0.120	20	37402462	missense variant	C/T	snv	8.0E-06		1
rs1555563871	STAT3	1.000	0.120	17	42323039	missense variant	C/T	snv			1
rs1567713850	STAT3	1.000	0.120	17	42329457	missense variant	T/A	snv			1
rs193922719	STAT3	1.000	0.120	17	42323120	missense variant	T/A	snv			1
rs193922720	STAT3	1.000	0.120	17	42323112	missense variant	C/T	snv			1
rs193922722	STAT3	1.000	0.120	17	42317192	missense variant	A/G	snv			1