DisGeNET - a database of gene-disease associations

List of associated variants

Abnormality of the liver, C4021780

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
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs1555257073	POMP	0.827	0.120	13	28672407	frameshift variant	AT/-	delins			25
rs778139192	KIF7 ; TICRR	0.776	0.360	15	89629561	stop gained	G/A;T	snv	4.1E-06; 7.3E-05		14
rs1553553086	FARSB	0.827	0.280	2	222623699	missense variant	C/T	snv			9
rs201430951	NUBPL	0.925	0.040	14	31599308	missense variant	T/C	snv	1.5E-04	5.6E-05	7
rs397514452	ADK	1.000		10	74670258	missense variant	C/A;T	snv	8.0E-06; 4.0E-06		5
rs121912714	SERPINA1	0.882	0.160	14	94380949	missense variant	T/A	snv	4.7E-04	3.3E-04	4
rs199422209	SERPINA1	0.882	0.160	14	94378528	missense variant	G/A;C;T	snv	4.8E-05; 1.2E-05; 3.2E-05		4