DisGeNET - a database of gene-disease associations

List of shared variants

Pancreatitis, C0030305

Disease: Liver Cirrhosis

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs57749775	KRT8	0.851	0.080	12	52904822	missense variant	A/G;T	snv	1.7E-03; 4.0E-06		6