DisGeNET - a database of gene-disease associations

List of associated variants

Hematocrit procedure, C0018935

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
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	43
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs833070	VEGFA	0.776	0.440	6	43774889	non coding transcript exon variant	T/C	snv		0.58	11
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs4506565	TCF7L2	0.790	0.280	10	112996282	intron variant	A/G;T	snv			22
rs11065987		0.807	0.280	12	111634620	intergenic variant	A/G	snv		0.29	17
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv		0.10	25
rs4803750	BCL3	0.807	0.240	19	44744370	upstream gene variant	A/G	snv		7.7E-02	22
rs2074755	BAZ1B	0.807	0.240	7	73462836	non coding transcript exon variant	T/C	snv		9.2E-02	20
rs495828		0.827	0.200	9	133279294	upstream gene variant	T/G	snv		0.81	24
rs2519093	ABO	0.882	0.200	9	133266456	intron variant	T/C	snv			16
rs9895661	BCAS3	0.882	0.200	17	61379228	non coding transcript exon variant	C/T	snv		0.69	10
rs651007		0.851	0.160	9	133278431	upstream gene variant	T/A;C	snv			22
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	21
rs562338		0.807	0.160	2	21065449	intergenic variant	A/G	snv		0.69	21