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
rs2276724	ALDH1L1	1.000	0.080	3	126135566	missense variant	T/C	snv	0.14	0.15	2
rs2280235	STAT1	1.000	0.080	2	190979104	splice region variant	A/G	snv		0.23	2
rs2287780	MTRR	0.925	0.080	5	7889191	missense variant	C/T	snv	6.1E-02	4.2E-02	2
rs26537	AP3S1 ; ATG12	0.925	0.080	5	115841317	3 prime UTR variant	T/C;G	snv			2
rs28599926	MIR1268A ; LOC101928039	1.000	0.080	15	22225320	mature miRNA variant	C/T	snv	4.8E-02	0.14	2
rs308379	FGF2	1.000	0.080	4	122861741	intron variant	A/T	snv		0.68	2
rs3771300	STAT1	1.000	0.080	2	190970870	intron variant	T/G	snv		0.47	2
rs3816747	DLC1	1.000	0.080	8	13499293	missense variant	G/A	snv	0.87	0.89	2
rs39315	CFTR ; WNT2	1.000	0.080	7	117323508	intron variant	T/C;G	snv			2
rs4131826	SDHC	0.925	0.080	1	161312594	upstream gene variant	T/C	snv		0.26	2
rs41557518	HLA-G	0.925	0.080	6	29828658	frameshift variant	C/-	delins		2.9E-02	2
rs4945008	NADSYN1	1.000	0.080	11	71510202	intron variant	A/G;T	snv			2
rs57408770	MIR3131 ; IHH	1.000	0.080	2	219058688	non coding transcript exon variant	-/AAG	delins			2
rs57422427	KRT8 ; MIR9898	0.925	0.080	12	52898859	missense variant	C/T	snv	3.5E-02	2.3E-02	2
rs587776802	PIK3CA	1.000	0.080	3	179234358	frameshift variant	-/A	delins			2
rs6684439	IL6R	0.925	0.080	1	154423363	intron variant	C/A;T	snv			2
rs7116978	PDE3B	1.000	0.080	11	14860225	intron variant	T/C	snv		0.65	2
rs749574370	ABCB1	0.925	0.080	7	87545934	missense variant	T/A;G	snv	4.0E-06; 4.0E-06		2
rs7708357		1.000	0.080	5	177104771	intergenic variant	A/G	snv		0.58	2
rs778624338	CTNNB1	1.000	0.080	3	41227270	stop gained	C/A;T	snv	2.0E-05	7.0E-06	2
rs7959378	TFCP2	1.000	0.080	12	51173447	upstream gene variant	A/C	snv		0.41	2
rs7976497	MLEC	1.000	0.080	12	120697664	3 prime UTR variant	T/C	snv		0.60	2
rs8191246	HSD17B2	1.000	0.080	16	82098435	stop lost	A/G	snv	1.3E-02	1.9E-02	2
rs894151	C8orf37-AS1	1.000	0.080	8	95226180	intron variant	T/C	snv		0.39	2
rs9200	C6 ; LOC105374739	1.000	0.080	5	41142504	3 prime UTR variant	C/A;T	snv			2