DisGeNET - a database of gene-disease associations

List of shared variants

Hemoglobin measurement, C0518015

Disease: Platelet Count measurement

Source: GWASCAT ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	16
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv		0.19	7
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6