DisGeNET - a database of gene-disease associations

List of associated variants

HEMOCHROMATOSIS, TYPE 1, C3469186

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
rs199474387	HLA-A	0.807	0.240	6	29942870	missense variant	G/C;T	snv			6
rs733655	TMPRSS6	0.827	0.240	22	37099011	intron variant	T/C	snv		0.28	6
rs6564851		0.882	0.120	16	81230992	intergenic variant	T/G	snv		0.48	5
rs11558492	GNPAT	0.827	0.200	1	231272345	missense variant	A/G;T	snv	0.16		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
rs121434375	HJV	0.851	0.080	1	146019672	stop gained	T/A	snv			4
rs104893662	SLC40A1	0.851	0.080	2	189571799	missense variant	T/A;G	snv			4
rs368420430	SLC40A1	0.851	0.080	2	189564177	missense variant	T/A;G	snv	5.2E-05; 8.0E-06		4
rs1830084	SRPRB ; LOC105374116 ; TF	0.882	0.160	3	133789620	3 prime UTR variant	A/G;T	snv			4
rs80338882	TFR2	0.851	0.080	7	100630973	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs80338891	TFR2	0.851	0.080	7	100620889	missense variant	C/T	snv	4.8E-05	5.6E-05	4
rs3817672	TFRC	0.882	0.240	3	196073940	missense variant	C/T	snv	0.45	0.43	4
rs56073403	AGT	0.882	0.160	1	230710009	missense variant	T/C	snv	7.2E-04	6.8E-04	3
rs781516027	LOC108783645 ; HFE	0.882	0.080	6	26092744	missense variant	C/G;T	snv	8.0E-06; 3.6E-05		3
rs2280673	RAB6B	0.882	0.160	3	133839310	intron variant	A/C;T	snv			3
rs41303501	TFR2	0.882	0.080	7	100629279	missense variant	C/T	snv	1.9E-03	2.1E-03	3
rs80338886	TFR2	0.882	0.080	7	100628228	missense variant	A/C	snv			3
rs884409	CYBRD1	0.925	0.080	2	171522147	upstream gene variant	T/G	snv		0.22	2
rs1335354324	F2	0.925	0.120	11	46719722	missense variant	G/A	snv			2
rs2858996	HFE	0.925	0.080	6	26093798	intron variant	G/A;C;T	snv			2
rs537002912	HFE	0.925	0.080	6	26093145	missense variant	A/G	snv	8.0E-06		2
rs748882267	HFE	0.925	0.080	6	26093156	missense variant	C/G	snv	4.0E-06		2
rs146519482	LOC108783645 ; HFE	0.925	0.080	6	26091475	stop gained	G/C;T	snv	4.5E-04		2
rs199916850	LOC108783645 ; HFE	0.925	0.080	6	26091521	missense variant	T/C	snv	8.0E-06	1.4E-05	2