DisGeNET - a database of gene-disease associations

List of associated variants

Idiopathic hypogonadotropic hypogonadism, C0342384

Source: CURATED ×

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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
rs727505372	TAC3	0.925	0.040	12	57013359	missense variant	G/T	snv			3
rs199538589	HS6ST1	0.925	0.040	2	128268254	missense variant	G/A	snv	1.9E-03	9.3E-04	2
rs28939719	KISS1R	0.882	0.040	19	919563	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
rs606231407	LOC105378457 ; FGF8	1.000	0.040	10	101770613	missense variant	C/T	snv	1.6E-05		2
rs727505367	UBA6-AS1 ; GNRHR	1.000	0.040	4	67753986	missense variant	A/C	snv		1.4E-05	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
rs727505374	ANOS1	1.000	0.040	X	8539744	stop gained	G/A	snv			2
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
rs104893840	GNRHR ; UBA6-AS1	1.000	0.040	4	67753832	missense variant	A/T	snv			1
rs104893841	GNRHR ; UBA6-AS1	1.000	0.040	4	67740526	stop gained	A/T	snv			1
rs104893842	GNRHR ; UBA6-AS1	0.925	0.040	4	67753920	missense variant	C/T	snv	1.4E-04	2.1E-04	1
rs104893843	UBA6-AS1 ; GNRHR	0.925	0.040	4	67754306	missense variant	A/T	snv	1.3E-04	6.3E-05	1
rs104893847	UBA6-AS1 ; GNRHR	1.000	0.040	4	67740508	missense variant	G/A	snv			1
rs104894701	KISS1R	0.925	0.040	19	920542	stop gained	C/T	snv		7.0E-06	1
rs104894702	KISS1R	0.925	0.040	19	920746	stop lost	T/A;C	snv	6.8E-05		1
rs121918340	MIR7114 ; NSMF	0.925	0.040	9	137449656	missense variant	T/C	snv			1
rs1391808526	GNRHR ; UBA6-AS1	1.000	0.040	4	67754089	missense variant	G/C	snv	4.0E-06	7.0E-06	1
rs144292455	TACR3	0.882	0.040	4	103656258	stop gained	C/T	snv	3.1E-04	3.8E-04	1
rs144900788	GNRHR ; UBA6-AS1	1.000	0.040	4	67753900	missense variant	G/A;T	snv	1.3E-03		1
rs281865427	UBA6-AS1 ; GNRHR	1.000	0.040	4	67754305	missense variant	GA/TT	mnv			1
rs28933074	GNRHR ; UBA6-AS1	1.000	0.040	4	67740616	missense variant	T/C	snv	4.0E-06	1.4E-05	1
rs515726219	UBA6-AS1 ; GNRHR	1.000	0.040	4	67754242	splice donor variant	T/C	snv	3.6E-05	7.0E-06	1