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
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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
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
rs3811647	TF	0.807	0.120	3	133765185	intron variant	G/A	snv		0.31	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
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
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
rs9357271	BTBD9	0.776	0.160	6	38398097	intron variant	T/C	snv		0.38	8
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs143396368	FXN	0.807	0.200	9	69072623	missense variant	G/A;C	snv	3.2E-05; 8.0E-06		7
rs492602	LOC105447645 ; FUT2	0.925	0.120	19	48703160	synonymous variant	A/G	snv	0.38	0.45	7
rs707889	HFE	0.827	0.200	6	26095703	3 prime UTR variant	G/A;T	snv			6
rs797045145	HFE ; LOC108783645	0.807	0.240	6	26091479	stop gained	G/A	snv			6