DisGeNET - a database of gene-disease associations

List of associated variants

Wolfram Syndrome, C0043207

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
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1190356035	GAD1	0.882	0.360	2	170853979	missense variant	G/A	snv		7.0E-06	4
rs1801208	WFS1	0.882	0.360	4	6301162	missense variant	G/A	snv	5.7E-02	5.0E-02	4
rs199946797	WFS1	0.882	0.360	4	6301467	missense variant	C/A;T	snv	6.7E-04		3
rs145639028	WFS1	0.925	0.320	4	6289047	missense variant	G/A	snv	2.2E-05	1.4E-05	2
rs1309408215	WFS1	1.000	0.320	4	6301423	missense variant	T/G	snv	4.0E-06		1
rs886044563	WFS1	1.000	0.320	4	6300732	missense variant	C/T	snv			1