DisGeNET - a database of gene-disease associations

List of associated variants

Squamous intraepithelial lesion, C0333873

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs2232365	FOXP3	0.716	0.480	X	49259429	intron variant	T/C	snv			16
rs767455	TNFRSF1A	0.742	0.400	12	6341779	synonymous variant	T/C	snv	0.37	0.40	13
rs2234649	TNFRSF1A	0.925	0.120	12	6342197	upstream gene variant	T/G	snv		4.8E-02	3