DisGeNET - a database of gene-disease associations

List of associated variants

Osteitis, C0029400

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs8193036	IL17A	0.689	0.600	6	52185695	upstream gene variant	C/T	snv		0.72	21
rs4711998	IL17A	0.708	0.360	6	52185555	upstream gene variant	A/G	snv		0.64	16
rs6908425	CDKAL1	0.752	0.320	6	20728500	intron variant	T/C	snv		0.78	11