DisGeNET - a database of gene-disease associations

List of associated variants

Gonadal Dysgenesis, 46,XX, C0949595

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
rs121909658	FSHR	0.776	0.200	2	48983125	missense variant	G/A	snv	6.9E-04	5.8E-04	8
rs386833511	FSHR	0.882	0.200	2	48963097	missense variant	G/A	snv			3
rs121909659	FSHR	0.925	0.160	2	48989022	missense variant	A/G;T	snv	4.0E-05; 4.0E-06		2
rs121909661	FSHR	0.925	0.200	2	48963566	missense variant	C/T	snv	4.0E-06		2
rs121909660	FSHR	1.000	0.160	2	48963104	missense variant	G/A	snv	1.2E-05		1
rs121909662	FSHR	1.000	0.160	2	48963266	missense variant	G/A;T	snv	4.0E-06		1
rs386833510	FSHR	1.000	0.160	2	48963778	missense variant	G/C	snv	4.0E-06	7.0E-06	1
rs386833512	FSHR	1.000	0.160	2	48963061	missense variant	G/T	snv			1
rs386833513	FSHR	1.000	0.160	2	48963020	missense variant	G/C	snv			1
rs386833514	FSHR	1.000	0.160	2	48982918	missense variant	A/C	snv			1
rs386833515	FSHR	1.000	0.160	2	48968881	missense variant	T/A;C	snv			1