DisGeNET - a database of gene-disease associations

List of associated variants

Hepatosplenomegaly, C0019214

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
rs421016	GBA	0.683	0.440	1	155235252	missense variant	A/C;G	snv	8.0E-06; 1.3E-03		30
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs34557412	TNFRSF13B	0.763	0.240	17	16948873	missense variant	A/G	snv	3.5E-03	3.9E-03	15
rs267607093	SRD5A3	0.851	0.160	4	55359444	stop gained	G/A	snv	4.0E-06		14
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs397518423	PIK3CD	0.790	0.240	1	9726972	missense variant	G/A	snv			10
rs1556620697	SH2D1A ; STAG2	0.827	0.360	X	124365758	splice region variant	C/G	snv			10
rs1559810905	IFIH1	0.827	0.240	2	162273810	missense variant	T/A	snv			9
rs116928232	LIPA	0.827	0.120	10	89222511	missense variant	C/G;T	snv	1.2E-05; 9.1E-04		9
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs121912748	SLC4A1	0.790	0.200	17	44253327	missense variant	C/T	snv	4.0E-05	2.1E-05	9
rs1557196978	ATP6AP1	0.851	0.120	X	154432444	missense variant	T/G	snv			8
rs748830051	GLB1	0.827	0.160	3	33068940	stop gained	C/T	snv	1.6E-05		7
rs80358263	NPC2	0.827	0.280	14	74486378	stop gained	G/T	snv	8.4E-06		7
rs757788894	CLCN7	0.882	0.120	16	1449081	missense variant	C/T	snv	4.0E-06		6
rs747506979	GBA	0.882	0.160	1	155235003	missense variant	G/A	snv	1.2E-05		4
rs1564875331	HBB	0.882	0.120	11	5226724	frameshift variant	CATAA/TGATGCC	delins			4
rs751689316	MECOM	0.925	0.080	3	169131510	missense variant	C/T	snv	1.2E-05		4
rs770407719	LIPA	0.925	0.080	10	89215021	missense variant	G/A	snv	1.6E-05	4.2E-05	3
rs121908302	GBA	1.000	0.120	1	155240033	missense variant	C/A	snv			2