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	AF GENOME	Num. diseases
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs587776802	PIK3CA	1.000	0.080	3	179234358	frameshift variant	-/A	delins			2
rs1553631896	CTNNB1	1.000	0.080	3	41233836	frameshift variant	-/A	delins			1
rs6147150	ERBB4	0.827	0.160	2	211380365	3 prime UTR variant	-/AAAATAGGATTG	delins			5
rs57408770	MIR3131 ; IHH	1.000	0.080	2	219058688	non coding transcript exon variant	-/AAG	delins			2
rs34000982	HMGB1	1.000	0.080	13	30459175	3 prime UTR variant	-/ATTA	delins		0.28	1
rs371194629	HLA-G	0.790	0.320	6	29830804	3 prime UTR variant	-/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT	ins			8
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1554043088	TERT	1.000	0.080	5	1294548	frameshift variant	-/C	delins			1
rs3917	COL1A2	0.925	0.160	7	94431047	3 prime UTR variant	-/GCTGTCC;GTTG;GTTGTCC;GTTGTGC	ins			3
rs56228771	SGSM3 ; MRTFA	0.827	0.200	22	40410091	3 prime UTR variant	-/GTCT;GTCTGTCT	delins			5
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs112395617	RAVER2 ; JAK1	1.000	0.080	1	64833868	3 prime UTR variant	-/TTAA;TTAATTAA	delins			1
rs28381975	PDCD6IP ; LOC105377023	0.827	0.200	3	33798239	intron variant	-/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA	delins			5
rs397514032	APC	1.000	0.080	5	112828923	frameshift variant	A/-	delins			1
rs1064793929	TP53	0.882	0.280	17	7675167	frameshift variant	A/-;AA	delins			5
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs7763881	HULC ; LOC100506207	0.776	0.160	6	8653014	non coding transcript exon variant	A/C	snv		0.44	11
rs6568431	ATG5	0.790	0.320	6	106140931	intron variant	A/C	snv		0.61	7
rs12304647	MIR196A2 ; HOXC6	0.807	0.160	12	53991163	intron variant	A/C	snv		0.26	6
rs1990172	MACC1	0.827	0.120	7	20164512	intron variant	A/C	snv		0.27	6
rs1517352	STAT4	0.851	0.160	2	191066738	intron variant	A/C	snv		0.45	5
rs1057519959	SF3B2	0.882	0.200	11	66063028	missense variant	A/C	snv			4
rs765660823	DDR2	0.882	0.200	1	162778720	missense variant	A/C	snv	1.9E-04		4