DisGeNET - a database of gene-disease associations

List of associated variants

Familial Testotoxicosis, C0342549

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
rs121912532	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.776	0.280	2	48688065	missense variant	C/A;G;T	snv	1.2E-05		12
rs121912535	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.827	0.240	2	48688427	missense variant	A/C	snv			6
rs28934586	GML ; CYP11B1	0.827	0.200	8	142875012	missense variant	C/T	snv	2.4E-05	2.1E-05	5
rs121912518	LHCGR ; STON1-GTF2A1L ; GTF2A1L	0.882	0.160	2	48688064	missense variant	T/C;G	snv			5
rs121912526	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.882	0.040	2	48688604	missense variant	A/G	snv			4
rs746394859	CD44	0.882	0.120	11	35229182	missense variant	A/G	snv	4.0E-06		3
rs121912540	GTF2A1L ; LHCGR ; STON1-GTF2A1L	0.882	0.040	2	48688106	missense variant	T/C	snv			3
rs121912534	STON1-GTF2A1L ; GTF2A1L ; LHCGR	0.882	0.040	2	48688094	missense variant	G/A;T	snv			3
rs1046910653	CD44	0.925	0.040	11	35206151	missense variant	C/T	snv			2
rs774592723	CD44	0.925	0.040	11	35204551	missense variant	C/T	snv	4.0E-06		2
rs121912521	GTF2A1L ; LHCGR ; STON1-GTF2A1L	0.925	0.200	2	48688067	missense variant	G/A	snv			2
rs121912522	STON1-GTF2A1L ; LHCGR ; GTF2A1L	0.925	0.040	2	48688082	missense variant	G/A;C	snv			2
rs79985395	CD44	1.000	0.040	11	35206211	missense variant	T/A;C;G	snv	4.6E-04; 2.5E-04		1
rs121912528	GTF2A1L ; LHCGR ; STON1-GTF2A1L	1.000	0.040	2	48688679	missense variant	G/A	snv			1
rs121912531	LHCGR ; GTF2A1L ; STON1-GTF2A1L	1.000	0.040	2	48688173	missense variant	T/G	snv			1
rs121912533	LHCGR ; GTF2A1L ; STON1-GTF2A1L	1.000	0.040	2	48688694	missense variant	A/G	snv			1
rs121912519	LHCGR ; STON1-GTF2A1L ; GTF2A1L	1.000	0.040	2	48688084	missense variant	C/T	snv			1