DisGeNET - a database of gene-disease associations

List of associated variants

Hematological Disease, C0018939

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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs4740	EBI3	0.827	0.240	19	4236999	missense variant	G/A	snv	0.34	0.39	8
rs5754217	UBE2L3	0.925	0.120	22	21585386	intron variant	G/T	snv		0.31	7
rs3093030	ICAM4 ; ICAM1	0.925	0.120	19	10286727	non coding transcript exon variant	C/T	snv		0.34	6
rs1639150	TRAP1	0.925	0.120	16	3697203	intron variant	C/T	snv		0.49	3
rs2072379	TRAP1	0.925	0.120	16	3688886	intron variant	C/T	snv		0.75	3
rs6983130	LYN	1.000	0.080	8	55880680	intron variant	A/G	snv		0.18	2
rs981505482	PKLR	1.000	0.120	1	155294506	missense variant	A/G	snv	4.0E-06	2.1E-05	2
rs12597773	TRAP1	1.000	0.040	16	3714708	intron variant	G/A;C	snv			2
rs3751842	TRAP1 ; DNASE1	1.000	0.040	16	3664610	3 prime UTR variant	C/G;T	snv			2