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
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs3743251	IGF1R	0.925	0.120	15	98960900	3 prime UTR variant	G/A	snv		0.15	2
rs2233682	PIN1	0.827	0.240	19	9838476	synonymous variant	G/A	snv	3.7E-02	6.3E-02	5
rs2233679	PIN1 ; LOC100996288	0.763	0.360	19	9834678	splice region variant	C/T	snv		0.59	11
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv			14
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs34050735	ASNS ; CZ1P-ASNS	1.000	0.080	7	97871848	5 prime UTR variant	G/C;T	snv			1
rs1229544		1.000	0.080	7	97793192	intergenic variant	C/T	snv		4.6E-02	1
rs10817938	PTCSC2	0.882	0.080	9	97700127	non coding transcript exon variant	T/C	snv		3.2E-02	5
rs11866328	GRIN2A	0.925	0.120	16	9768699	intron variant	G/T	snv		0.38	3
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs6489769	RAD52	0.851	0.120	12	963799	intron variant	C/A;T	snv			4
rs705382	PON1	0.827	0.200	7	95325909	upstream gene variant	C/G	snv		0.53	5
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs894151	C8orf37-AS1	1.000	0.080	8	95226180	intron variant	T/C	snv		0.39	2
rs121917783	FANCC	0.851	0.200	9	95150056	stop gained	G/A	snv	5.6E-05	1.0E-04	6
rs13078	DICER1	0.827	0.280	14	95090410	3 prime UTR variant	A/T	snv		0.85	5
rs1057035	DICER1	0.763	0.440	14	95087805	3 prime UTR variant	T/C	snv		0.26	12
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs767864210	PDLIM5	0.882	0.120	4	94657500	missense variant	G/A;T	snv	8.0E-05	2.1E-05	3
rs3917	COL1A2	0.925	0.160	7	94431047	3 prime UTR variant	-/GCTGTCC;GTTG;GTTGTCC;GTTGTGC	ins			3
rs1998056	SERPINA6	1.000	0.080	14	94323158	intron variant	C/A;G	snv			1
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40