DisGeNET - a database of gene-disease associations

List of associated variants

Rabson-Mendenhall Syndrome, C0271695

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
rs121913144	INSR	0.925	0.200	19	7125462	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs121913145	INSR	0.925	0.160	19	7184583	missense variant	T/C	snv	8.0E-06	2.1E-05	2
rs1229730671	INSR	0.925	0.160	19	7122893	missense variant	G/A	snv			2
rs781007453	INSR	0.925	0.160	19	7184524	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		2
rs111993466	INSR	1.000	0.160	19	7122671	missense variant	G/A	snv			1
rs121913143	INSR	1.000	0.160	19	7267871	missense variant	G/T	snv			1
rs587776819	INSR	1.000	0.160	19	7172436	splice acceptor variant	T/C	snv			1
rs587776820	INSR	1.000	0.160	19	7142871	frameshift variant	GTCCTGGT/-	delins			1
rs764221583	INSR	1.000	0.160	19	7172402	missense variant	C/T	snv	4.0E-06	1.4E-05	1
rs886037750	INSR	1.000	0.160	19	7267603	missense variant	C/T	snv			1
rs887190835	INSR	1.000	0.160	19	7141726	missense variant	T/C	snv		7.0E-06	1