DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

Variants associated to the Gene: INSR ×

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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
rs1181860747	INSR	0.776	0.240	19	7122961	missense variant	C/T	snv			10
rs2059806	INSR	0.807	0.240	19	7166365	synonymous variant	C/G;T	snv	4.0E-06; 0.26		7
rs1366600	INSR	1.000	0.080	19	7112870	3 prime UTR variant	A/G	snv		5.9E-02	2
rs1799816	INSR	1.000	0.080	19	7125507	missense variant	C/T	snv	8.4E-03	5.3E-03	1
rs756025720	INSR	1.000	0.080	19	7142929	missense variant	G/A	snv	8.0E-06	7.0E-06	1