IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries with clinican phenotype Abnormal platelet count (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	Pain, Hb F levels, Anaemia, Reticulocytopenia, Reticulocytosis, Abnormal white blood cell count, Abnormal platelet count, F-cell numbers, Bilirubin levels, Vaso-occlusive crisis, Hb F response to hydroxyurea, Stroke	NG_011968.1	67591
2093	rs6545816	N/A	NG_011968.1:g.70773T>G	BCL11A	Modifier	Hb F levels, F-cell numbers, Abnormal platelet count	NG_011968.1	70773
2096	rs9399137	N/A	NC_000006.12:g.135097880T>C	HBS1L-MYB	Modifier	Hb F levels, Abnormal red blood cell count, Abnormal platelet count, Pain, Acute chest syndrome	NT_025741.15
2840	rs66650371	N/A	NC_000006.12:g.135097495_135097497delTAC	HBS1L-MYB	Modifier	Anaemia, Abnormal red blood cell count, Abnormal white blood cell count, Abnormal platelet count, Hb F levels	NT_025741.15
2943	rs2282786	N/A	NG_011441.1:g.93457T>C	EGF	Modifier	Abnormal platelet count	NG_011441.1	93457
3531	rs9277053	N/A	NC_000006.12:g.33038445G>A	HLA-DOA-HLA-DPA1	Modifier	Abnormal platelet count	N/A	0
3527	rs1977081	N/A	NG_008631.1:g.15510T>C	PNPLA3	Modifier	Abnormal platelet count	NG_008631.1	15510
3528	rs739496	N/A	NG_021216.1:g.48908A>G	SH2B3	Modifier	Abnormal platelet count	NG_021216.1	48908
3529	rs9469032	N/A	NC_000006.12:g.31677649C>G	LY6G5C	Modifier	Abnormal platelet count	NM_025262.3	0
3530	rs13091574	N/A	NG_012136.1:g.8828T>G	THPO	Modifier	Abnormal platelet count	NG_012136.1	8828

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.