DisGeNET - a database of gene-disease associations

List of associated variants

CRISPONI/COLD-INDUCED SWEATING SYNDROME 3, C4310742

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
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs1554289078	KLHL7	0.925	0.080	7	23140945	splice donor variant	G/A	snv			3
rs780705654	KLHL7	0.925	0.200	7	23167916	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		2
rs879255556	KLHL7	0.925	0.200	7	23167919	missense variant	T/A	snv			2
rs879255557	KLHL7	0.925	0.200	7	23165780	frameshift variant	T/-	delins			2
rs879255558	KLHL7	0.925	0.200	7	23165876	missense variant	G/A	snv			2