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
rs1554154042	LOC108783645 ; HFE	1.000	0.080	6	26092828	frameshift variant	A/-	delins			1
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1048230	SLC11A2	0.827	0.160	12	50992283	synonymous variant	A/G	snv	0.17	0.15	5
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
rs137852310	ALAS2	0.882	0.120	X	55021095	missense variant	A/G	snv			3
rs1397742363	MAP3K8	1.000	0.080	10	30451716	missense variant	A/G	snv	4.0E-06		1
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
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
rs80338879	TFR2	0.882	0.080	7	100633515	missense variant	A/T	snv	8.3E-06		3
rs777018511	HFE ; LOC108783645	0.925	0.080	6	26091451	frameshift variant	C/-	delins	1.2E-05	7.0E-06	2
rs773050231	TFR2	1.000	0.080	7	100628299	frameshift variant	C/-	delins	1.1E-04		1
rs74315323	HJV	0.882	0.080	1	146018399	missense variant	C/A	snv	1.7E-04	2.7E-04	4
rs772104483	TFR2	1.000	0.080	7	100628288	missense variant	C/A	snv	8.0E-06		1
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs1168921011	MYBPH	1.000	0.080	1	203171152	missense variant	C/A;T	snv			1
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs2111833	TMPRSS6	1.000	0.080	22	37084757	synonymous variant	C/G;T	snv	0.31		2
rs786204108	TFR2	1.000	0.080	7	100626866	missense variant	C/G;T	snv	1.3E-05		1