DisGeNET - a database of gene-disease associations

List of associated variants

HEMOCHROMATOSIS, TYPE 1, C3469186

Source: ALL

Results per page

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
rs80338891	TFR2	0.851	0.080	7	100620889	missense variant	C/T	snv	4.8E-05	5.6E-05	4
rs80338886	TFR2	0.882	0.080	7	100628228	missense variant	A/C	snv			3
rs41303501	TFR2	0.882	0.080	7	100629279	missense variant	C/T	snv	1.9E-03	2.1E-03	3
rs80338882	TFR2	0.851	0.080	7	100630973	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs34242818	TFR2	0.925	0.080	7	100633241	missense variant	G/C	snv	1.8E-02	4.0E-02	2
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
rs3811647	TF	0.807	0.120	3	133765185	intron variant	G/A	snv		0.31	15
rs1830084	SRPRB ; LOC105374116 ; TF	0.882	0.160	3	133789620	3 prime UTR variant	A/G;T	snv			4
rs2280673	RAB6B	0.882	0.160	3	133839310	intron variant	A/C;T	snv			3
rs121434375	HJV	0.851	0.080	1	146019672	stop gained	T/A	snv			4
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs884409	CYBRD1	0.925	0.080	2	171522147	upstream gene variant	T/G	snv		0.22	2
rs1424266770	CASP3	0.790	0.200	4	184632307	missense variant	C/G	snv	8.0E-06		10
rs368420430	SLC40A1	0.851	0.080	2	189564177	missense variant	T/A;G	snv	5.2E-05; 8.0E-06		4
rs11568350	SLC40A1	0.790	0.240	2	189565370	missense variant	C/A	snv	3.8E-03	1.6E-02	9
rs1449300685	SLC40A1	0.925	0.080	2	189565581	missense variant	C/T	snv			2
rs104893662	SLC40A1	0.851	0.080	2	189571799	missense variant	T/A;G	snv			4
rs3817672	TFRC	0.882	0.240	3	196073940	missense variant	C/T	snv	0.45	0.43	4
rs779359707	TFRC	0.925	0.080	3	196073990	missense variant	T/C	snv	4.0E-06		2
rs56073403	AGT	0.882	0.160	1	230710009	missense variant	T/C	snv	7.2E-04	6.8E-04	3
rs11558492	GNPAT	0.827	0.200	1	231272345	missense variant	A/G;T	snv	0.16		5
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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226