DisGeNET - a database of gene-disease associations

List of shared variants

Primary malignant neoplasm, C1306459

Disease: Liver carcinoma

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs8898	CTSB	0.925	0.120	8	11845033	3 prime UTR variant	T/C	snv		0.37	5
rs13332	CTSB	0.925	0.120	8	11849072	synonymous variant	T/C;G	snv	3.5E-02; 0.56		6
rs12338	CTSB	0.807	0.200	8	11853379	missense variant	G/A;C;T	snv	8.0E-06; 0.38; 2.4E-05		10
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv		0.11	18
rs16917496	KMT5A	0.689	0.360	12	123409283	3 prime UTR variant	C/G;T	snv			21
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1302103336	CHEK1	0.776	0.120	11	125637491	missense variant	T/C	snv	8.1E-06		12
rs2066827	GPR19 ; CDKN1B	0.695	0.320	12	12718165	missense variant	T/A;C;G	snv	1.6E-04; 1.6E-05; 0.26		21
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs2070874	IL4	0.672	0.560	5	132674018	5 prime UTR variant	C/T	snv	0.28	0.28	27
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42