DisGeNET - a database of gene-disease associations

List of shared variants

Finding of Mean Corpuscular Hemoglobin, C1261502

Disease: Platelet mean volume determination (procedure)

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
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	25
rs13331259	FAM234A			16	249924	intron variant	A/G	snv		3.0E-02	14
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs35979828	NFE2			12	54292096	intron variant	C/T	snv		5.0E-02	9
rs11627485	FNTB ; CHURC1-FNTB ; MAX			14	65020976	intron variant	T/C	snv		0.36	5
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	5
rs1569419	PRDM16			1	3080038	intron variant	T/C	snv		0.73	5
rs78909033	RNPEPL1			2	240571486	intron variant	G/A	snv		9.2E-02	5
rs17116384	ZBTB16			11	114110519	intron variant	A/G	snv		0.25	3
rs35150201	STMP1			7	135661514	upstream gene variant	T/G	snv		0.42	3
rs4499344	PDCD5			19	32582525	intron variant	G/A	snv		0.46	3
rs2227831	F2R			5	76727669	intron variant	A/G	snv		2.7E-02	2