DisGeNET - a database of gene-disease associations

List of associated variants

HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, C4016104

Source: INFERRED ×

Results per page

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
rs121909641	FGFR1	0.763	0.520	8	38419720	missense variant	G/A	snv			9
rs121909639	FGFR1	0.925	0.160	8	38415899	stop gained	G/A	snv			2
rs121909629	FGFR1	0.882	0.200	8	38415905	missense variant	C/T	snv			1
rs121909630	FGFR1	0.925	0.160	8	38428043	missense variant	C/A	snv			1
rs121909638	FGFR1	0.882	0.280	8	38421853	missense variant	A/G	snv			1
rs121909642	FGFR1	0.925	0.160	8	38414174	missense variant	G/A	snv			1
rs397515444	FGFR1	0.925	0.160	8	38417975	missense variant	G/A;T	snv	4.0E-06		1
rs397515445	FGFR1	0.807	0.280	8	38414263	missense variant	T/C	snv			1
rs397515446	FGFR1	0.925	0.160	8	38414599	missense variant	C/T	snv			1
rs587776835	FGFR1	1.000		8	38418340	frameshift variant	CA/-	del			1
rs886037634	FGFR1	0.925	0.160	8	38421836	missense variant	C/T	snv			1