DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

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
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv		0.11	18
rs2221903	IL21-AS1 ; IL21	0.752	0.360	4	122617757	intron variant	C/T	snv		0.77	12
rs12508721	IL21-AS1	0.742	0.360	4	122623509	intron variant	C/T	snv		0.24	11
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
rs10901425	MMP21	0.851	0.200	10	125773956	missense variant	A/G	snv	0.76	0.78	4
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
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
rs621554	DLC1	0.882	0.120	8	13086182	intron variant	C/T	snv		0.52	3
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs62514004	CCN4	0.790	0.240	8	133190246	upstream gene variant	A/G	snv		0.28	8
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
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs9485372	TAB2	0.807	0.120	6	149287738	intron variant	G/A	snv		0.20	6
rs7732671	PPARGC1B	0.851	0.200	5	149832680	missense variant	G/C	snv	9.4E-02	0.11	4
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs3210714	SPARC	0.882	0.120	5	151662371	3 prime UTR variant	C/T	snv		0.45	3