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
rs104893662	SLC40A1	0.851	0.080	2	189571799	missense variant	T/A;G	snv			4
rs121434375	HJV	0.851	0.080	1	146019672	stop gained	T/A	snv			4
rs368420430	SLC40A1	0.851	0.080	2	189564177	missense variant	T/A;G	snv	5.2E-05; 8.0E-06		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
rs41303501	TFR2	0.882	0.080	7	100629279	missense variant	C/T	snv	1.9E-03	2.1E-03	3
rs781516027	LOC108783645 ; HFE	0.882	0.080	6	26092744	missense variant	C/G;T	snv	8.0E-06; 3.6E-05		3
rs80338886	TFR2	0.882	0.080	7	100628228	missense variant	A/C	snv			3
rs1449300685	SLC40A1	0.925	0.080	2	189565581	missense variant	C/T	snv			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
rs2858996	HFE	0.925	0.080	6	26093798	intron variant	G/A;C;T	snv			2
rs28934597	LOC108783645 ; HFE	0.925	0.080	6	26091041	missense variant	G/C	snv	1.2E-05	7.0E-06	2
rs34242818	TFR2	0.925	0.080	7	100633241	missense variant	G/C	snv	1.8E-02	4.0E-02	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
rs779359707	TFRC	0.925	0.080	3	196073990	missense variant	T/C	snv	4.0E-06		2
rs884409	CYBRD1	0.925	0.080	2	171522147	upstream gene variant	T/G	snv		0.22	2
rs111033558	HFE	1.000	0.080	6	26093215	missense variant	G/C;T	snv			1
rs149342416	LOC108783645 ; HFE	1.000	0.080	6	26087458	missense variant	G/C	snv	6.9E-04	7.0E-04	1
rs1561939338	HFE ; LOC108783645	1.000	0.080	6	26090839	splice acceptor variant	AGGT/TGGAGTC	delins			1
rs28934596	HFE ; LOC108783645	1.000	0.080	6	26091078	missense variant	T/C	snv	4.0E-06	7.0E-06	1
rs747739169	HFE ; LOC108783645	1.000	0.080	6	26090960	missense variant	C/T	snv	2.0E-05	1.4E-05	1
rs763369315	HAMP	1.000	0.080	19	35285003	stop gained	C/A;T	snv	4.0E-06		1
rs3811647	TF	0.807	0.120	3	133765185	intron variant	G/A	snv		0.31	15