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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs3811647	TF	0.807	0.120	3	133765185	intron variant	G/A	snv		0.31	15
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
rs771184127	NOD2	0.790	0.200	16	50710807	missense variant	G/A	snv	1.2E-05	2.1E-05	9
rs1161457931	TMPRSS6	0.763	0.200	22	37084836	missense variant	C/T	snv	6.4E-06		9
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs765545512	HFE	0.827	0.240	6	26093226	missense variant	G/A;T	snv	4.0E-06; 1.6E-05		6
rs199474387	HLA-A	0.807	0.240	6	29942870	missense variant	G/C;T	snv			6
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
rs143175221	LOC108783645 ; HFE	0.827	0.200	6	26092952	missense variant	T/C	snv	8.4E-04	5.6E-04	5