IthaGenes

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Showing all entries in chromosome 13 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2715	rs600640	N/A	NG_012003.1:g.10297C>T	FLT1	Modifier	Hb F levels	NG_012003.1	10297
2714	rs670084	N/A	NG_012003.1:g.24482G>T	FLT1	Modifier	Hb F levels	NG_012003.1	24482
2713	rs2256849	N/A	NG_012003.1:g.28414T>C	FLT1	Modifier	Hb F levels	NG_012003.1	28414
2712	rs638889	N/A	NG_012003.1:g.29914A>G	FLT1	Modifier	Hb F levels	NG_012003.1	29914
2162	rs8002446	N/A	NG_012003.1:g.76866C>T	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	76866
2160	rs2387634	N/A	NG_012003.1:g.83838A>G	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	83838
2148	rs2182008	N/A	NG_012003.1:g.87205T>C	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	87205
2711	rs9508026	N/A	NG_012003.1:g.89866G>A	FLT1	Modifier	Hb F levels	NG_012003.1	89866
2710	rs9513097	N/A	NG_012003.1:g.97877G>A	FLT1	Modifier	Hb F levels	NG_012003.1	97877
2147	rs9319428	N/A	NG_012003.1:g.100645C>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	100645
2146	rs3751395	N/A	NG_012003.1:g.115311G>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	115311
2709	rs2387632	N/A	NG_012003.1:g.157923A>G	FLT1	Modifier	Hb F levels	NG_012003.1	157923
2708	rs7987291	N/A	NG_012003.1:g.180060T>C	FLT1	Modifier	Hb F levels	NG_012003.1	180060
2774	rs398655	N/A	NG_011485.1:g.2082A>C	KL	Modifier	Hb F levels	NG_011485.1	2082
2589	rs576404	N/A	NG_011485.1:g.7530C>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	7530
2588	rs499091	N/A	NG_011485.1:g.8586A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	8586
2587	rs2238166	N/A	NG_011485.1:g.9111C>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9111
2586	rs211234	N/A	NG_011485.1:g.9558G>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9558
2578	rs211235	N/A	NG_011485.1:g.9630T>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9630
2585	rs211239	N/A	NG_011485.1:g.10619A>G	KL	Modifier	Priapism, Osteonecrosis/Avascular necrosis	NG_011485.1	10619
2584	rs565587	N/A	NG_011485.1:g.14089A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	14089
2583	rs516306	N/A	NG_011485.1:g.14707T>C	KL	Modifier	Osteonecrosis/Avascular necrosis, Leg ulcers	NG_011485.1	14707
2577	rs480780	N/A	NG_011485.1:g.21749G>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	21749
2747	rs577912	N/A	NG_011485.1:g.24581T>G	KL	Modifier	Hb F levels	NG_011485.1	24581
2748	rs7982726	N/A	NG_011485.1:g.25141T>C	KL	Modifier	Hb F levels	NG_011485.1	25141
2581	rs685417	N/A	NG_011485.1:g.27562G>A	KL	Modifier	Osteonecrosis/Avascular necrosis, Leg ulcers, Hb F levels	NG_011485.1	27562
3543	rs656525	N/A	NG_011485.1:g.37107A>C	KL	Modifier	Acute chest syndrome	NG_011485.1	37107
3330	rs1888057	N/A	NG_011485.1:g.37125C>T	KL	Modifier	Pulmonary arterial hypertension	NG_011485.1	37125
2647	rs2249358	N/A	NG_011485.1:g.37594G>A	KL	Modifier	Priapism	NG_011485.1	37594
2749	rs9527025	N/A	NG_011485.1:g.42623G>C	KL	Modifier	Hb F levels	NG_011485.1	42623
2580	rs2149860	N/A	NG_011485.1:g.43419A>G	KL	Modifier	Osteonecrosis/Avascular necrosis, Leg ulcers	NG_011485.1	43419
2750	rs648202	N/A	NG_011485.1:g.49893T>C	KL	Modifier	Hb F levels	NG_011485.1	49893
2732	rs4468448	N/A	NG_011963.2:g.47702T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	47702
2733	rs4769058	N/A	NG_011963.2:g.50817T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	50817
2734	rs4445746	N/A	NC_000013.11:g.30767298G>A	ALOX5AP	Modifier	Hb F levels	NG_011963.2	30767298
2625	rs9576135	N/A	NG_016963.1:g.17251T>C	SMAD9	Modifier	Leg ulcers	NG_016963.1	17251
2601	rs538874	N/A	NG_029752.2:g.566235C>T	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	566235
2602	rs475303	N/A	NG_029752.2:g.575929A>G	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	575929
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Osteonecrosis/Avascular necrosis, Leg ulcers	N/A
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis	N/A
3999	rs9315599	N/A	NC_000013.11:g.20463469C>G	CRYL1	Modifier	Proteinuria	N/A
3447	rs35108810	N/A	NC_000013.11:g.32443800T>A	N4BP2L2	Modifier	Hb F response to hydroxyurea	NM_033111.4	0
3448	rs16955011	N/A	NC_000013.11:g.98176963C>T	RNF113B	Modifier	Hb F response to hydroxyurea	NM_178861.5	0
3476	rs6309	N/A	NG_013011.1:g.5570T>A	HTR2A	Modifier	Acute chest syndrome	NG_013011.1	5570
3893	rs9533156	N/A	NC_000013.11:g.42573535T>C	RANKL	Modifier	Reduced bone mineral density	NG_008990.1	15800

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