DisGeNET - a database of gene-disease associations

List of associated variants

Hepatomegaly, C0019209

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs113993959	CFTR	0.677	0.280	7	117587778	stop gained	G/A;T	snv	8.0E-06; 3.4E-04		25
rs886039799	BBS9	0.763	0.320	7	33273896	frameshift variant	C/-	del			17
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		11
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs1567705064	G6PC	1.000	0.080	17	42907570	frameshift variant	ATGGTCACATCTA/-	del			8
rs886039794	LRRCC1 ; LOC105375933	0.851	0.480	8	85109594	splice acceptor variant	G/C	snv			8
rs1555269154	GNPTAB	0.851	0.280	12	101761307	frameshift variant	-/CTTTGTGA	delins			7
rs1057519466	HEXA	0.925	0.160	15	72346307	frameshift variant	G/-	del			7
rs572115942	PHKG2	0.925	0.240	16	30756714	missense variant	G/A	snv	8.0E-05	7.7E-05	7
rs768849283	PRF1	0.882	0.040	10	70600517	missense variant	C/G	snv	6.8E-05		7
rs1567608853	CYBA	0.925	0.160	16	88646212	non coding transcript exon variant	G/C	snv			6
rs1060499680	GNPTAB	0.882	0.200	12	101768036	splice donor variant	C/A;T	snv	4.0E-06		6
rs1060499681	GNPTAB	0.882	0.200	12	101764303	frameshift variant	C/-	del			6
rs751953529	GNPTAB	0.882	0.200	12	101786012	missense variant	C/T	snv	4.0E-06		6
rs1554174425	RHAG	0.925	0.160	6	49618113	missense variant	A/C	snv			6
rs1057516674	G6PC	0.882	0.160	17	42901026	frameshift variant	GT/-	del			5
rs878853315	GBA	0.925	0.160	1	155236292	missense variant	G/C	snv			5
rs1060499685	GNPTAB	0.882	0.160	12	101764547	frameshift variant	AA/-	delins			5
rs1555271865	GNPTAB	0.925	0.160	12	101786204	frameshift variant	-/T	delins			5
rs886039908	GPC3	0.925	0.360	X	133536175	frameshift variant	A/-	delins			5
rs879253740	NPC2 ; ISCA2	0.882	0.240	14	74493191	splice donor variant	A/G	snv			5