DisGeNET - a database of gene-disease associations

List of associated variants

Cirrhosis, C1623038

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
rs10020432	AFP	0.925	0.080	4	73455883	3 prime UTR variant	A/G	snv		0.54	2
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs1012068	DEPDC5	0.827	0.160	22	31869917	intron variant	T/G	snv		0.37	5
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs1041740	SOD1	0.807	0.320	21	31667849	intron variant	C/T	snv		0.24	8
rs10433937	HSD17B13	0.882	0.080	4	87308948	intron variant	T/A;C;G	snv			4
rs1054690270	LOC101928953 ; GPT	0.827	0.160	8	144505907	frameshift variant	CT/-	delins			5
rs10945859	PRKN	0.882	0.120	6	162721570	intron variant	T/C	snv		0.17	3
rs11003123	MBL2	0.827	0.200	10	52771774	upstream gene variant	G/A	snv		0.30	6
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs1140409	MIR3064 ; DDX5	0.925	0.080	17	64500552	missense variant	A/C	snv	5.4E-02	5.0E-02	2
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs1161457931	TMPRSS6	0.763	0.200	22	37084836	missense variant	C/T	snv	6.4E-06		9
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs12075	CADM3-AS1 ; ACKR1	0.724	0.240	1	159205564	missense variant	G/A	snv	0.51	0.66	22
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
rs12104272	SCAF1	0.925	0.080	19	49644795	intron variant	G/A	snv		0.44	2
rs121918664	TERT	0.851	0.120	5	1254395	missense variant	C/T	snv	5.2E-05	9.1E-05	4
rs12304647	MIR196A2 ; HOXC6	0.807	0.160	12	53991163	intron variant	A/C	snv		0.26	6
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs1346044973	TERT	0.851	0.160	5	1294158	missense variant	G/A	snv	1.1E-05		4
rs137853590	PHKG2	0.882	0.160	16	30751140	stop gained	C/T	snv	4.0E-06		3