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
rs6564851		0.882	0.120	16	81230992	intergenic variant	T/G	snv		0.48	5
rs56073403	AGT	0.882	0.160	1	230710009	missense variant	T/C	snv	7.2E-04	6.8E-04	3
rs9357271	BTBD9	0.776	0.160	6	38398097	intron variant	T/C	snv		0.38	8
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10
rs884409	CYBRD1	0.925	0.080	2	171522147	upstream gene variant	T/G	snv		0.22	2
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs1335354324	F2	0.925	0.120	11	46719722	missense variant	G/A	snv			2
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs143396368	FXN	0.807	0.200	9	69072623	missense variant	G/A;C	snv	3.2E-05; 8.0E-06		7
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs11558492	GNPAT	0.827	0.200	1	231272345	missense variant	A/G;T	snv	0.16		5
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs763369315	HAMP	1.000	0.080	19	35285003	stop gained	C/A;T	snv	4.0E-06		1
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs707889	HFE	0.827	0.200	6	26095703	3 prime UTR variant	G/A;T	snv			6
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
rs111033558	HFE	1.000	0.080	6	26093215	missense variant	G/C;T	snv			1
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs797045145	HFE ; LOC108783645	0.807	0.240	6	26091479	stop gained	G/A	snv			6
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
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