DisGeNET - a database of gene-disease associations

List of associated variants

Mean corpuscular hemoglobin concentration determination, C0474535

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
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		38
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	14
rs4820268	TMPRSS6	0.851	0.160	22	37073551	missense variant	G/A;C	snv	0.53; 4.0E-06		14
rs9494145		0.925	0.080	6	135111414	intergenic variant	T/A;C	snv			11
rs4895441	LOC105378010	0.925	0.080	6	135105435	upstream gene variant	A/G	snv		0.21	10
rs9376092	LOC105378010	0.851	0.120	6	135106006	upstream gene variant	C/A	snv		0.24	10
rs129128	H2BC4 ; H2AC6			6	26125114	intron variant	C/T	snv		0.91	7
rs7203560	NPRL3	1.000	0.080	16	134391	intron variant	T/G	snv		2.0E-02	7
rs12216125		0.925	0.120	6	25997230	intron variant	C/T	snv		0.26	6
rs837763	LOC107984842			16	88787321	upstream gene variant	C/G;T	snv			5
rs2213169	HBE1 ; HBG2			11	5281833	intron variant	G/A;T	snv		4.2E-02	4
rs857725	SPTA1			1	158638145	stop gained	T/A;G	snv	4.0E-06; 0.28		3
rs2160906	TMPRSS6			22	37097138	intron variant	G/A	snv		0.17	3
rs1541252	ATP2B4			1	203682799	5 prime UTR variant	T/A;C	snv			2
rs2266928	CAPN15			16	530124	intron variant	C/A;G	snv			2
rs950488	LOC107985213			1	158490185	intron variant	C/A	snv		0.19	2
rs228904	TMPRSS6			22	37098774	intron variant	A/G	snv		0.17	2
rs9937239				16	87073514	downstream gene variant	G/A;C	snv			1