DisGeNET - a database of gene-disease associations

List of associated variants

Congenital hypogonadotropic hypogonadism, C3899503

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
rs104893837	GNRHR ; UBA6-AS1	0.807	0.160	4	67740682	missense variant	C/T	snv	1.8E-03	1.3E-03	6
rs1458235863	FGFR1	0.925	0.160	8	38412424	3 prime UTR variant	G/A	snv		5.6E-05	4
rs751668763	ANOS1	0.925	0.160	X	8585338	missense variant	C/T	snv	2.2E-05		2
rs751918319	ANOS1	0.925	0.160	X	8539692	missense variant	C/T	snv	2.2E-05		2
rs746602135	FGFR1	0.925	0.160	8	38413746	missense variant	C/T	snv	3.2E-05	4.9E-05	2
rs747333248	FGFR1	0.925	0.160	8	38418234	missense variant	C/T	snv	2.4E-05	1.4E-05	2
rs780153672	FGFR1	0.925	0.160	8	38428352	missense variant	G/A	snv	2.8E-05	2.1E-05	2
rs886042254	FGFR1	0.925	0.160	8	38428079	missense variant	A/G	snv			2
rs200895370	SEMA7A	0.925	0.160	15	74417900	missense variant	G/A;C	snv	4.0E-04; 4.0E-06		2
rs776572648	SEMA7A ; MIR6881	0.925	0.160	15	74411886	missense variant	C/T	snv	9.2E-05	5.6E-05	2