IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries in chromosome 7 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2634	rs740127	N/A	NG_011499.1:g.187063C>T	JAZF1	Modifier	Hb F levels	NG_011499.1	187063
2650	rs2070744 (T786C, -786T>C)	N/A	NG_011992.1:g.6933C>T	NOS3	Modifier	Reticulocytosis, Recurrent upper respiratory tract infections, Increased lactate dehydrogenase activity, Delayed menarche, Retinopathy, Acute chest syndrome, Bilirubin levels	NG_011992.1	6933
3549	27bp-VNTR (eNOS4a/b)	N/A	NG_011992.1:g.11166_11192[4]	NOS3	Modifier	Abnormal neutrophil cell number, Red blood cell aggregation, Vaso-occlusive crisis, Pulmonary arterial hypertension, Stroke	NG_011992.1	11166
2948	rs1799983 (G894T)	N/A	NG_011992.1:g.12965T>G	NOS3	Modifier	Delayed menarche, Anaemia, Reticulocytosis, Increased lactate dehydrogenase activity, Abnormal haematocrit	NG_011992.1	12965
2735	rs1008140	N/A	NG_011992.1:g.22464T>C	NOS3	Modifier	Hb F levels	NG_011992.1	22464
2736	rs743507	N/A	NG_011992.1:g.24342C>T	NOS3	Modifier	Hb F levels	NG_011992.1	24342
2737	rs1808593	N/A	NG_011992.1:g.25156G>T	NOS3	Modifier	Hb F levels	NG_011992.1	25156
2778	rs38850	N/A	NG_008996.1:g.30191G>A	MET	Modifier	Stroke	NG_008996.1	30191
2779	rs38859	N/A	NG_008996.1:g.71636C>T	MET	Modifier	Stroke	NG_008996.1	71636
2783	rs6972505	N/A	NC_000007.14:g.103423590C>G	SLC26A5	Modifier	Severity	NG_023055.1	27588
3834	rs7804867	N/A	NC_000007.14:g.103393310G>A	SLC26A5	Modifier	Severity	NG_023055.1	57868
2922	rs1800797 (-597G>A)	N/A	NG_011640.1:g.4456A>G	IL6	Modifier	Retinopathy	NG_011640.1	4456
2923	rs1800795 (-174G>C)	N/A	NG_011640.1:g.4880C>G	IL6	Modifier	Leg ulcers, Stroke	NG_011640.1	4880
2932	rs662 (Q192R)	N/A	NG_008779.1:g.21439A>G	PON1	Modifier	Stroke	NG_008779.1	21439
3121	rs7385804	N/A	NG_007989.1:g.8204G>T	TFR2	Modifier	Decreased serum ferritin	NG_007989.1	8204
3658	rs1949857	N/A	NC_000007.14:g.71006906C>T	AUTS2-GALNT17	Modifier	F-cell numbers	N/A
3132	rs61742645	N/A	NC_000007.14:g.156969123C>T	NOM1	Modifier	Hb F response to hydroxyurea	N/A
2768	rs219825	N/A	NC_000007.14:g.99047942C>G	SMURF1	Modifier	Leg ulcers	N/A
2766	rs10244884	N/A	NC_000007.14:g.30932180T>C	AQP1	Modifier	Priapism	N/A
3544	rs1526083	N/A	NG_050579.1:g.9354A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3545	rs12536620	N/A	NG_050579.1:g.44506A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3145	rs1984112	N/A	NG_008192.1:g.16417A>G	CD36	Modifier	Reticulocytosis, Vaso-occlusive crisis	NG_008192.1	16417
3150	rs6466533	N/A	NG_011487.1:g.294999A>G	MAGI2	Modifier	Hb F levels	NG_011487.1	294999
3449	rs55904231	N/A	NC_000007.14:g.2239684G>A	MRM2	Modifier	Hb F response to hydroxyurea	NM_013393.3	0
3456	rs6967330	N/A	NC_000007.14:g.106018005G>A	CDHR3	Modifier	Hb F response to hydroxyurea	NM_152750.5	0
3462	rs11972142	N/A	NG_052801.1:g.73041A>G	PKD1L1	Modifier	Hb F response to hydroxyurea	NG_052801.1	73041
3474	rs5576	N/A	NG_016148.1:g.12545A>G	NPY	Modifier	Acute chest syndrome	NG_016148.1	12545
3504	rs1851426	N/A	NG_008421.1:g.3873T>C	CYP3A4	Modifier	Pain	NG_008421.1	3873
3522	rs11981340	N/A	NG_015888.1:g.155282A>G	CDK6	Modifier	Abnormal white blood cell count	NG_015888.1	155282
3640	rs3800569	N/A	NC_000007.14:g.138726680C>T	ATP6V0A4	Modifier	F-cell numbers	NG_008145.1	76517
4051	rs1563408	N/A	NC_000007.14:g.114663134G>A	FOXP2	Modifier	Severity	NG_007491.3

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.