IthaGenes

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Showing all entries with clinican phenotype F-cell numbers (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2127	-158 C>T (rs7482144, XmnI)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Severity, Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia	NG_000007.3	42677
2073	rs10184550	N/A	NG_011968.1:g.56340C>T	BCL11A	Modifier	F-cell numbers, Hb F levels	NG_011968.1	56340
2074	rs7606173	N/A	NG_011968.1:g.60183C>G	BCL11A	Modifier	F-cell numbers, Hb F levels	NG_011968.1	60183
2075	rs6706648	N/A	NG_011968.1:g.63594G>A	BCL11A	Modifier	F-cell numbers, Hb F levels	NG_011968.1	63594
2066	rs4671393	N/A	NG_011968.1:g.64683T>C	BCL11A	Modifier	Acute chest syndrome, F-cell numbers, Hb F levels	NG_011968.1	64683
2072	rs766432	N/A	NG_011968.1:g.65664G>T	BCL11A	Modifier	Hb F response to hydroxyurea, Hb F levels, F-cell numbers, Pain, Response to hydroxyurea	NG_011968.1	65664
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	Abnormal platelet count, Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia	NG_011968.1	67591
2093	rs6545816	N/A	NG_011968.1:g.70773T>G	BCL11A	Modifier	Abnormal platelet count, F-cell numbers, Hb F levels	NG_011968.1	70773
2068	rs6732518	N/A	NG_011968.1:g.77037G>A	BCL11A	Modifier	F-cell numbers, Hb F levels	NG_011968.1	77037
3410	rs9494142 (rs11154792)	N/A	NC_000006.12:g.135110502T>C	HBS1L-MYB	Modifier	Hb F levels, F-cell numbers	NT_025741.15	0
2103	rs6904897	N/A	NC_000006.12:g.135061842T>G	HBS1L-MYB	Modifier	F-cell numbers	NT_025741.15	0
3698	rs16998911	N/A	NG_016419.1:g.49280T>C	FRMPD4	Modifier	F-cell numbers, Hb F levels	NG_016419.1	49280
2114	IVS XII-9251 G>A (rs12559632)	N/A	NG_007563.1:g.115072G>A	PHEX	Modifier	F-cell numbers	NG_007563.1	115072
3648	rs830868	N/A	NC_000005.10:g.52622080G>T	MFSD4BP1-ITGA1	Modifier	F-cell numbers	N/A
3670	rs584297	N/A	NC_000001.11:g.226520780T>C	LOC105373115	Modifier	F-cell numbers	N/A
3669	rs1442080	N/A	NC_000018.10:g.53658224G>A	RPL29P32-MBD2	Modifier	F-cell numbers	N/A
3666	rs2954930	N/A	NC_000012.12:g.11899768G>A	ETV6-BCL2L14	Modifier	F-cell numbers	N/A
3664	rs10439027	N/A	NC_000018.10:g.62620051T>C	ZCCHC2-RN7SL705P	Modifier	F-cell numbers	N/A
3662	rs6891834	N/A	NC_000005.10:g.171841199C>T	LOC107986476	Modifier	F-cell numbers	N/A
3660	rs4395533	N/A	NC_000004.12:g.120560795G>A	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3659	rs9304395	N/A	NC_000018.10:g.50309414G>T	CXXC1-RNA5SP458	Modifier	F-cell numbers	N/A
3658	rs1949857	N/A	NC_000007.14:g.71006906C>T	AUTS2-GALNT17	Modifier	F-cell numbers	N/A
2116	rs6630120	N/A	NC_000023.11:g.25718363A>G	RANBP1P1-MAGEB18	Modifier	F-cell numbers	N/A
3641	rs1845344	N/A	NC_000004.12:g.120041230G>T	PDE5A-MAD2L1	Modifier	F-cell numbers	N/A
2886	rs243027	N/A	NC_000002.12:g.60379872T>G	MIR4432HG	Modifier	F-cell numbers	N/A
2887	rs243081	N/A	NC_000002.12:g.60386641G>A	MIR4432HG	Modifier	F-cell numbers	N/A
3637	rs11968814	N/A	NC_000006.12:g.71067268G>A	B3GAT2-BECN1P2	Modifier	F-cell numbers	N/A
3639	rs10017284	N/A	NC_000004.12:g.120592060A>G	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3643	rs2577720	N/A	NC_000002.12:g.23325743A>C	LOC107985792-KLHL29	Modifier	F-cell numbers	N/A
3644	rs17135859	N/A	NC_000005.10:g.113660957T>C	YTHDC2-KCNN2	Modifier	F-cell numbers	N/A
3645	rs16914695	N/A	NC_000009.12:g.29336305A>G	PDK1P1-ME2P1	Modifier	F-cell numbers	N/A
3638	rs1318772	N/A	NG_012265.1:g.105961T>C	MCC	Modifier	F-cell numbers	NG_012265.1	105961
3640	rs3800569	N/A	NC_000007.14:g.138726680C>T	ATP6V0A4	Modifier	F-cell numbers	NG_008145.1	76517
3642	rs2279638	N/A	NC_000001.11:g.220828445G>A	LINC01352	Modifier	F-cell numbers	NR_110797.1
3646	rs11071959	N/A	NG_029143.1:g.228883A>G	MAP2K5	Modifier	F-cell numbers	NG_029143.1	228883
3647	rs3850229	N/A	NC_000006.12:g.147857222G>A	SAMD5	Modifier	F-cell numbers	NM_001030060.3
3649	rs140518	N/A	NC_000022.11:g.50560753C>T	SYCE3	Modifier	F-cell numbers	NM_001123225.3
3650	rs10510789	N/A	NC_000003.12:g.56843760C>T	ARHGEF3	Modifier	F-cell numbers	NM_019555.3
3661	rs7032759	N/A	NC_000009.12:g.131960810T>C	MED27	Modifier	F-cell numbers	NM_004269.4
3665	rs2113120	N/A	NC_000016.10:g.78654247T>C	WWOX	Modifier	F-cell numbers	NG_011698.1	559594
3667	rs757369	N/A	NC_000014.9:g.68506829A>G	RAD51B	Modifier	F-cell numbers	NG_023267.2	692051
3668	rs12412148	N/A	NG_033998.1:g.90878C>T	SVIL	Modifier	F-cell numbers	NG_033998.1	90878

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