DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic hypogonadotropic hypogonadism, C0342384

Source: INFERRED ×

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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
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs121909641	FGFR1	0.763	0.520	8	38419720	missense variant	G/A	snv			9
rs138249161	POLR3B	0.827	0.240	12	106432421	missense variant	T/A	snv	2.7E-04	3.0E-04	8
rs121909628	FGFR1	0.925	0.160	8	38414892	stop gained	G/A;C	snv			3
rs515726224	FGFR1	0.925	0.320	8	38417962	missense variant	C/T	snv			3
rs1057518936	PNPLA6	0.925	0.120	19	7541025	missense variant	C/G	snv			3
rs374434303	PNPLA6	0.882	0.200	19	7561509	missense variant	C/A;T	snv	3.8E-05		3
rs774526181	POLR3B	0.882	0.200	12	106427360	splice donor variant	T/C	snv	8.0E-06	2.1E-05	3
rs727505374	ANOS1	1.000	0.040	X	8539744	stop gained	G/A	snv			2
rs876661330	FGF8 ; LOC105378457	0.882	0.160	10	101771522	stop gained	G/A	snv	4.0E-06		2
rs727505369	FGFR1	0.925	0.160	8	38424624	missense variant	T/C	snv			2
rs727505370	FGFR1	1.000	0.040	8	38414840	missense variant	A/G	snv			2
rs727505371	FGFR1	1.000	0.040	8	38421840	frameshift variant	AG/-	delins	4.0E-06		2
rs727505373	FGFR1	0.925	0.160	8	38429744	missense variant	T/C	snv			2
rs727505376	FGFR1	0.925	0.160	8	38414279	missense variant	C/G;T	snv			2
rs606231407	LOC105378457 ; FGF8	1.000	0.040	10	101770613	missense variant	C/T	snv	1.6E-05		2
rs730882248	RNF216 ; MIR6874	0.925	0.160	7	5711761	splice region variant	C/T	snv			2
rs727505372	TAC3	0.925	0.040	12	57013359	missense variant	G/T	snv			2
rs104893836	UBA6-AS1 ; GNRHR	0.790	0.160	4	67754019	missense variant	T/C	snv	2.8E-03	2.3E-03	2
rs727505367	UBA6-AS1 ; GNRHR	1.000	0.040	4	67753986	missense variant	A/C	snv		1.4E-05	2
rs121909640	FGFR1	0.925	0.160	8	38429898	missense variant	C/T	snv			1
rs727505377	FGFR1	1.000	0.040	8	38414001	missense variant	A/G	snv			1
rs104893837	GNRHR ; UBA6-AS1	0.807	0.160	4	67740682	missense variant	C/T	snv	1.8E-03	1.3E-03	1
rs104893838	GNRHR ; UBA6-AS1	1.000	0.040	4	67753950	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.6E-05		1
rs104893839	GNRHR ; UBA6-AS1	1.000	0.040	4	67744659	missense variant	G/T	snv			1