DisGeNET - a database of gene-disease associations

List of associated variants

Iron Overload, C0282193

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
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs2333227	MPO	0.752	0.320	17	58281401	upstream gene variant	C/T	snv		0.24	15
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs199474387	HLA-A	0.807	0.240	6	29942870	missense variant	G/C;T	snv			6
rs121918366	SLC11A2	0.827	0.160	12	50992291	missense variant	G/A;C	snv			5
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
rs121918365	SLC11A2	0.882	0.080	12	50992810	missense variant	C/G	snv		1.4E-05	3
rs137852310	ALAS2	0.882	0.120	X	55021095	missense variant	A/G	snv			3
rs137852311	ALAS2	0.882	0.120	X	55014830	missense variant	G/A;T	snv			3
rs7536827		0.925	0.080	1	146037054	upstream gene variant	T/A;C;G	snv			3
rs1423207026	SLC40A1	0.925	0.080	2	189571755	missense variant	C/A	snv			2
rs1445492598	SLC40A1	0.925	0.080	2	189562128	missense variant	C/T	snv			2
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs1458641771	TFR2	0.925	0.080	7	100632146	missense variant	G/A	snv	4.0E-06		2
rs765545512	HFE	0.827	0.240	6	26093226	missense variant	G/A;T	snv	4.0E-06; 1.6E-05		6
rs121434374	HJV	0.851	0.080	1	146018395	stop gained	G/C;T	snv	1.2E-05; 4.0E-06		4
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		14
rs368122334	HFE	1.000	0.040	6	26094198	missense variant	G/A;C	snv	4.0E-06; 4.0E-06; 1.6E-05		1
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs80338882	TFR2	0.851	0.080	7	100630973	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs200249435	TFR2	0.827	0.200	7	100641071	missense variant	G/A;C	snv	4.2E-06; 8.3E-06		5
rs7745236	BMP6 ; LOC105374907	1.000	0.040	6	7727292	missense variant	C/G	snv	4.9E-06; 4.1E-03	1.0E-02	1
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9