DisGeNET - a database of gene-disease associations

List of shared variants

White Blood Cell Count procedure, C0023508

Disease: Body Height

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
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
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs445	CDK6			7	92779056	intron variant	C/T	snv		0.14	9
rs34811474	ANAPC4	1.000	0.040	4	25407216	missense variant	G/A;T	snv	0.15; 4.1E-06		8
rs1042725	HMGA2	0.882	0.080	12	65964567	3 prime UTR variant	C/T	snv		0.48	7
rs7740107	L3MBTL3	1.000	0.080	6	130053316	intron variant	T/A;G	snv			6
rs5112	APOC1P1	1.000	0.080	19	44927023	non coding transcript exon variant	C/G	snv		0.55	5
rs3795503	LOC107985231 ; KIAA1614			1	180936558	synonymous variant	C/T	snv	0.31	0.27	3
rs7713145		1.000	0.040	5	177354208	upstream gene variant	G/A	snv		0.37	3
rs10908505	MEF2D			1	156498451	intron variant	T/A;G	snv			2
rs2853946	HLA-B			6	31279426	intron variant	A/G;T	snv		0.37	2
rs4807462	NFIC			19	3408667	intron variant	A/C;G;T	snv			2