DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic hypogonadotropic hypogonadism, C0342384

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
rs281865427	UBA6-AS1 ; GNRHR	1.000	0.040	4	67754305	missense variant	GA/TT	mnv			1
rs515726219	UBA6-AS1 ; GNRHR	1.000	0.040	4	67754242	splice donor variant	T/C	snv	3.6E-05	7.0E-06	1
rs797044452	UBA6-AS1 ; GNRHR	1.000	0.040	4	67744788	splice acceptor variant	C/T	snv			1
rs886907903	UBA6-AS1 ; GNRHR	1.000	0.040	4	67754226	missense variant	A/C	snv			1
rs727505374	ANOS1	1.000	0.040	X	8539744	stop gained	G/A	snv			2
rs121909640	FGFR1	0.925	0.160	8	38429898	missense variant	C/T	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
rs727505376	FGFR1	0.925	0.160	8	38414279	missense variant	C/G;T	snv			2
rs781328162	FGFR1	0.925	0.160	8	38413714	missense variant	C/T	snv	2.0E-05	3.5E-05	2
rs104893842	GNRHR ; UBA6-AS1	0.925	0.040	4	67753920	missense variant	C/T	snv	1.4E-04	2.1E-04	2
rs199538589	HS6ST1	0.925	0.040	2	128268254	missense variant	G/A	snv	1.9E-03	9.3E-04	2
rs104894701	KISS1R	0.925	0.040	19	920542	stop gained	C/T	snv		7.0E-06	2
rs104894702	KISS1R	0.925	0.040	19	920746	stop lost	T/A;C	snv	6.8E-05		2
rs606231407	LOC105378457 ; FGF8	1.000	0.040	10	101770613	missense variant	C/T	snv	1.6E-05		2
rs121918340	MIR7114 ; NSMF	0.925	0.040	9	137449656	missense variant	T/C	snv			2
rs376239580	PROKR2	0.925	0.040	20	5302632	missense variant	G/A	snv	1.2E-05	2.1E-05	2
rs730882248	RNF216 ; MIR6874	0.925	0.160	7	5711761	splice region variant	C/T	snv			2
rs104893843	UBA6-AS1 ; GNRHR	0.925	0.040	4	67754306	missense variant	A/T	snv	1.3E-04	6.3E-05	2
rs727505367	UBA6-AS1 ; GNRHR	1.000	0.040	4	67753986	missense variant	A/C	snv		1.4E-05	2
rs1363196459	EDNRA	0.882	0.040	4	147486001	missense variant	A/G	snv	4.0E-06		3
rs876661330	FGF8 ; LOC105378457	0.882	0.160	10	101771522	stop gained	G/A	snv	4.0E-06		3
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
rs727505369	FGFR1	0.925	0.160	8	38424624	missense variant	T/C	snv			3