DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT ×

Variants associated to the Gene: STAT3 ×

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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
rs113994136	STAT3	0.827	0.240	17	42329642	missense variant	C/A;T	snv			7
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
rs869312890	STAT3	0.925	0.120	17	42339328	missense variant	G/A	snv			3
rs869312892	STAT3	0.925	0.120	17	42316899	missense variant	G/A	snv			3
rs886039434	STAT3	0.925	0.120	17	42322404	missense variant	A/G	snv			3
rs1131691476	STAT3	1.000	0.120	17	42317209	missense variant	A/G	snv			2
rs1555566820	STAT3	1.000	0.120	17	42333736	missense variant	A/T	snv			2
rs113994137	STAT3	1.000	0.120	17	42329423	missense variant	C/T	snv		7.0E-06	1
rs113994138	STAT3	1.000	0.120	17	42325038	inframe deletion	CAC/-	delins			1
rs1555563717	STAT3	1.000	0.120	17	42322407	missense variant	A/T	snv			1
rs397514766	STAT3	1.000	0.120	17	42329621	missense variant	G/A	snv			1