DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary hemochromatosis, C0392514

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
rs137852310	ALAS2	0.882	0.120	X	55021095	missense variant	A/G	snv			3
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs1374259518	HAMP	0.882	0.080	19	35284995	missense variant	T/C	snv			3
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs765545512	HFE	0.827	0.240	6	26093226	missense variant	G/A;T	snv	4.0E-06; 1.6E-05		6
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
rs777018511	HFE ; LOC108783645	0.925	0.080	6	26091451	frameshift variant	C/-	delins	1.2E-05	7.0E-06	2
rs765804978	HFE ; LOC108783645	1.000	0.080	6	26091519	frameshift variant	CC/-	del			1
rs773624350	HFE ; LOC108783645	1.000	0.080	6	26092887	synonymous variant	C/T	snv	4.0E-06		1
rs121434374	HJV	0.851	0.080	1	146018395	stop gained	G/C;T	snv	1.2E-05; 4.0E-06		4
rs74315323	HJV	0.882	0.080	1	146018399	missense variant	C/A	snv	1.7E-04	2.7E-04	4
rs143496559	HJV	0.925	0.080	1	146018454	missense variant	C/T	snv	2.9E-04	5.2E-04	2
rs781959255	HJV	0.925	0.080	1	146019321	missense variant	C/T	snv	8.1E-06		2
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs199474387	HLA-A	0.807	0.240	6	29942870	missense variant	G/C;T	snv			6
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs143175221	LOC108783645 ; HFE	0.827	0.200	6	26092952	missense variant	T/C	snv	8.4E-04	5.6E-04	5
rs140080192	LOC108783645 ; HFE	1.000	0.080	6	26092897	missense variant	G/A;C	snv	3.6E-03		1
rs1554154042	LOC108783645 ; HFE	1.000	0.080	6	26092828	frameshift variant	A/-	delins			1
rs202068193	LOC108783645 ; HFE	1.000	0.080	6	26092834	missense variant	G/A	snv	5.6E-05	1.4E-05	1