DisGeNET - a database of gene-disease associations

List of associated variants

Thymic Carcinoma, C0205969

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
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			41
rs121913513	KIT	0.776	0.120	4	54727495	missense variant	T/C	snv			10
rs1057519711	KIT	0.882	0.240	4	54733168	missense variant	T/A	snv			5
rs1057519704	KIT	0.882	0.080	4	54727425	missense variant	T/A	snv			3
rs1324255598	ERBB2 ; MIR4728	1.000	0.080	17	39725780	missense variant	C/G	snv	4.0E-06		1
rs763308199	KIT	1.000	0.080	4	54729433	missense variant	C/A;T	snv	1.6E-05		1