IthaGenes

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Showing all entries in chromosome 14 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2274	rs10483801	N/A	NG_011964.1:g.35428C>A	ARG2	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011964.1	35428
2275	rs10483802	N/A	NG_011964.1:g.35843T>C	ARG2	Modifier	Hb F response to hydroxyurea	NG_011964.1	35843
2672	rs7147286	N/A	NG_008647.1:g.15878C>T	GCH1	Modifier	Pain	NG_008647.1	15878
3126	rs61743453	N/A	NG_001332.2:g.46438G>C	SALL2	Modifier	Hb F response to hydroxyurea	NG_051069.1	46438
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain	N/A
2919	rs2295644	N/A	NC_000014.9:g.67599842A>T	ARG2	Modifier	Hb F response to hydroxyurea	N/A
3127	rs141631682	N/A	NC_000014.9:g.99865589G>A	EML1	Modifier	Hb F response to hydroxyurea	N/A
3128	rs17126352	N/A	NC_000014.9:g.73254537G>A	PAPLN	Modifier	Hb F response to hydroxyurea	N/A
3909	rs10142478	N/A	NC_000014.9:g.21481668C>A	TOX4	Modifier	Stroke	N/A
4003	rs4903539	N/A	NC_000014.9:g.77066345T>G	LINC02288	Modifier	Abnormal GFR	N/A
3143	rs4644 (+191 (CCT>CAT) [Pro>His])	N/A	NG_017089.1:g.14001C>A	LGALS3	Modifier	Recurrent respiratory infections	NG_017089.1	14001
3144	rs4652 (+292 ACT>CCT [Thr>Pro])	N/A	NG_017089.1:g.14102A>C	LGALS3	Modifier	Vaso-occlusive crisis, Recurrent respiratory infections	NG_017089.1	14102
3157	rs45496295	N/A	NG_009617.1:g.6420G>A	CEBPE	Modifier	Anaemia	NG_009617.1	6420
3667	rs757369	N/A	NC_000014.9:g.68506829A>G	RAD51B	Modifier	F-cell numbers	NG_023267.2	692051

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