IthaGenes

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Showing all entries with clinican phenotype Severity (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3826	rs6578598	N/A	NC_000011.10:g.5297978A>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3
3828	rs449937	N/A	NC_000011.10:g.5469115G>A	OR51B5	Modifier	Severity	NG_000007.3
3825	rs3888708	N/A	NG_000007.3:g.466G>T	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	466
3824	rs7933082	N/A	NG_000007.3:g.2115C>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	2115
3107	rs4601817	N/A	NG_000007.3:g.6445T>C	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	6445
2812	rs11036639	N/A	NG_000007.3:g.8340T>G	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	8340
3106	rs11036634	N/A	NG_000007.3:g.10118G>A	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	10118
2813	rs11036562	N/A	NG_000007.3:g.24701G>T	ε	Modifier	Hb F levels, Severity	NG_000007.3	24701
3820	rs3759069	N/A	NG_000007.3:g.27016T>A	ε	Modifier	Severity	NG_000007.3	27016
2727	rs3759070	N/A	NG_000007.3:g.27218G>C	ε	Modifier	Hb F levels, Severity	NG_000007.3	27218
2824	rs4910740	N/A	NG_000007.3:g.31556C>T	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	31556
2814	rs10837707	N/A	NG_000007.3:g.32038A>G	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	32038
3819	rs7480802	N/A	NG_000007.3:g.36338A>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36338
3818	rs10160820	N/A	NG_000007.3:g.36389T>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36389
3411	rs2855121	N/A	NG_000007.3:g.41555G>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41555
2874	rs2855123	N/A	NG_000007.3:g.41768T>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41768
3816	rs2011051	N/A	NG_000007.3:g.42028C>A	Gγ	Modifier	Severity	NG_000007.3	42028
2127	-158 C>T (XmnI, rs7482144)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity	NG_000007.3	42677
3815	rs2070973	N/A	NG_000007.3:g.43439A>G	Gγ	Modifier	Severity	NG_000007.3	43439
2804	rs2070972	N/A	NG_000007.3:g.44129T>G	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	44129
3813	rs2236794	N/A	NG_000007.3:g.44579G>A	Gγ	Modifier	Severity	NG_000007.3	44579
2803	rs2855125	N/A	NG_000007.3:g.45159A>C	HBG1-HBG2	Modifier	Hb F levels, Severity	NG_000007.3	45159
2802	rs2855126	N/A	NG_000007.3:g.45699G>C	HBG1-HBG2	Modifier	Hb F levels, Hyperuricemia, Severity	NG_000007.3	45699
3812	rs2855036	N/A	NG_000007.3:g.46164G>A	Aγ	Modifier	Severity	NG_000007.3	46164
2801	rs2855038	N/A	NG_000007.3:g.46692A>G	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	46692
3814	rs2187608	N/A	NG_000007.3:g.48915C>G	Aγ	Modifier	Severity	NG_000007.3	48915
2800	rs916111	N/A	NG_000007.3:g.49503A>T	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	49503
3811	rs11036431	N/A	NG_000007.3:g.53166C>T	pseudo β	Modifier	Severity	NG_000007.3	53166
2815	rs2071348	N/A	NG_000007.3:g.54700A>C	pseudo β	Modifier	Hb F levels, Severity	NG_000007.3	54700
2128	rs10128556	N/A	NG_000007.3:g.55163G>A	pseudo β	Modifier	HPFH, Hb F levels, Severity	NG_000007.3	55163
2811	rs2105819	N/A	NG_000007.3:g.59119C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	59119
2810	rs4910543	N/A	NG_000007.3:g.60019C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60019
2809	rs4402323	N/A	NG_000007.3:g.60254G>A	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60254
2808	rs4320977	N/A	NG_000007.3:g.60684T>C	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60684
2807	rs10837643	N/A	NG_000007.3:g.60808A>T	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60808
2806	rs3759074	N/A	NG_000007.3:g.61068C>T	δ	Modifier	Hb F levels, Severity	NG_000007.3	61068
2799	rs3813727	N/A	NG_000007.3:g.62934T>C	δ	Modifier	Hb F levels, Severity	NG_000007.3	62934
2872	rs6578588	N/A	NG_000007.3:g.66595A>G	HBB-HBD	Modifier	Hb F levels, Severity	NG_000007.3	66595
3189	rs7936823	N/A	NG_000007.3:g.68678C>T	β	Modifier	Hb F levels, Anaemia, Severity	NG_000007.3	68678
2805	rs2580874	N/A	NG_011588.1:g.11633C>T	AICDA	Modifier	Hb F levels, Severity	NG_011588.1	11633
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
3833	rs4376364	N/A	NC_000006.12:g.134986347T>G	HBS1L	Modifier	Severity	NG_012002.1	73552
3810	rs3759073	N/A	NG_000007.3:g.60581A>G	HBD-HBBP1	Modifier	Severity	N/A
3829	rs366257	N/A	NC_000011.10:g.5469313C>T	OR51B5	Modifier	Severity	N/A
3830	rs446541	N/A	NC_000011.10:g.5471070A>T	OR51B5	Modifier	Severity	N/A
3831	rs2030090	N/A	NC_000011.10:g.5452863A>G	OR51I2	Modifier	Severity	N/A
3832	rs3886223	N/A	NC_000011.10:g.5322517G>T	OR51B3P-OR51B2	Modifier	Severity	N/A
4050	rs766003	N/A	NC_000009.12:g.69865524G>A	CFAP95	Modifier	Severity	N/A
4053	rs6443662	N/A	NC_000003.12:g.179633577C>T	NDUFB5-USP13	Modifier	Severity	N/A
4056	rs234915	N/A	NC_000006.12:g.2209343T>G	GMDS	Modifier	Severity	N/A
3807	rs483850	N/A	NC_000001.11:g.206916626T>A	FCMR	Modifier	Severity	NM_005449.5
3808	rs934956	N/A	NC_000002.12:g.104480671G>A	LINC01102	Modifier	Severity	NR_015399.1
3809	rs370898	N/A	NC_000003.12:g.21426209C>A	ZNF385D	Modifier	Severity	NM_024697.3
3827	rs10837774	N/A	NC_000011.10:g.5302158G>A	OR51B4	Modifier	Severity	NM_033179.2
3836	rs545537	N/A	NC_000006.12:g.117323878C>T	ROS1	Modifier	Severity	NG_033929.1	106978
3837	rs678343	N/A	NC_000011.10:g.65204160G>C	CAPN1	Modifier	Severity	NG_052817.1
3838	rs638135	N/A	NC_000011.10:g.86474646A>G	ME3	Modifier	Severity	NM_006680.3
3839	rs632538	N/A	NC_000011.10:g.86480651C>T	ME3	Modifier	Severity	NM_006680.3
3840	rs593753	N/A	NC_000011.10:g.72980395T>C	FCHSD2	Modifier	Severity	NM_014824.3
4051	rs1563408	N/A	NC_000007.14:g.114663134G>A	FOXP2	Modifier	Severity	NG_007491.3
4052	rs903047	N/A	NC_000003.12:g.131033165A>G	NEK11	Modifier	Severity	NG_029225.1
4054	rs950310	N/A	NC_000004.12:g.9841226T>A	SLC2A9	Modifier	Severity	NG_011540.2
4055	rs258824	N/A	NC_000005.10:g.143217725C>T	ARHGAP26	Modifier	Severity	NG_016711.2

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