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
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
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
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
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs2333227	MPO	0.752	0.320	17	58281401	upstream gene variant	C/T	snv		0.24	15
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		14
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
rs11568350	SLC40A1	0.790	0.240	2	189565370	missense variant	C/A	snv	3.8E-03	1.6E-02	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
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
rs863223904	ALAS2	0.827	0.200	X	55014829	missense variant	C/T	snv	6.1E-06		5
rs11558492	GNPAT	0.827	0.200	1	231272345	missense variant	A/G;T	snv	0.16		5
rs779021719	HAMP	0.827	0.120	19	35284962	stop gained	C/G;T	snv	9.1E-05		5
rs121918366	SLC11A2	0.827	0.160	12	50992291	missense variant	G/A;C	snv			5
rs121918367	SLC11A2	0.827	0.080	12	50999214	missense variant	C/A;T	snv	6.0E-05		5
rs200249435	TFR2	0.827	0.200	7	100641071	missense variant	G/A;C	snv	4.2E-06; 8.3E-06		5
rs121434374	HJV	0.851	0.080	1	146018395	stop gained	G/C;T	snv	1.2E-05; 4.0E-06		4
rs121434375	HJV	0.851	0.080	1	146019672	stop gained	T/A	snv			4