DisGeNET - a database of gene-disease associations

List of associated variants

GALLOWAY-MOWAT SYNDROME 1, C4551772

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
rs727502864	SCAND2P ; WDR73	1.000	0.240	15	84645587	frameshift variant	-/G	delins		7.0E-06	1
rs754099015	SCAND2P ; WDR73	1.000	0.240	15	84643568	missense variant	G/A	snv	4.1E-06		1
rs797044994	SCAND2P ; WDR73	1.000	0.240	15	84643667	stop gained	G/A	snv			1
rs727502863	WDR73	1.000	0.240	15	84652783	stop gained	A/C	snv			1
rs797044993	WDR73	1.000	0.240	15	84653673	missense variant	A/T	snv			1
rs797044995	WDR73	1.000	0.240	15	84648537	missense variant	C/G;T	snv	4.0E-06		1
rs863223396	WDR73	1.000	0.240	15	84647949	missense variant	A/G	snv			1
rs767086146	WDR73 ; SCAND2P	1.000	0.240	15	84646300	frameshift variant	TC/-	delins		7.0E-06	1
rs797044992	WDR73 ; SCAND2P	1.000	0.240	15	84645651	stop gained	G/A	snv	4.3E-06	2.1E-05	1
rs866551482	WDR73 ; SCAND2P	1.000	0.240	15	84645587	missense variant	C/T	snv			1
rs869320712	WDR73 ; SCAND2P	1.000	0.240	15	84643719	frameshift variant	A/-	delins			1