DisGeNET - a database of gene-disease associations

List of associated variants

Liver carcinoma, C2239176

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	Num. diseases
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv		37
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv		37
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv		37
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv		37
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05	36
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv		34
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06	34
rs217727	MRPL23 ; HOTS ; H19	0.641	0.480	11	1995678	non coding transcript exon variant	G/A	snv	0.20	34
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv		33
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv		33
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv		33
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv		33
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv		32
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv		32
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv		31
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06	31
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06	31
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv		29
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06	28
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv		28
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv		28
rs17851045	KRAS	0.672	0.400	12	25227341	missense variant	T/A;G	snv	4.0E-06	27
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02	27
rs28933406	LRRC56 ; HRAS	0.667	0.480	11	533875	missense variant	G/C;T	snv		27