IthaGenes

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Showing all entries with clinican phenotype Pain (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	F-cell numbers, Severity, Anaemia, Hb F levels, Pain, Hb F response to hydroxyurea	NG_000007.3	42677
2067	rs7557939	N/A	NG_011968.1:g.64287C>T	BCL11A	Modifier	Anaemia, Pain, Hb F levels	NG_011968.1	64287
2065	rs11886868	N/A	NG_011968.1:g.65388G>A	BCL11A	Modifier	Pain, Hb F levels, Anaemia	NG_011968.1	65388
2072	rs766432	N/A	NG_011968.1:g.65664G>T	BCL11A	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, 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, Anaemia, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia	NG_011968.1	67591
3912	rs7776196	N/A	NC_000006.12:g.135097850A>G	HBS1L-MYB	Modifier	Pain	NT_025741.15
2096	rs9399137	N/A	NC_000006.12:g.135097880T>C	HBS1L-MYB	Modifier	Abnormal platelet count, Hb F levels, Acute chest syndrome, Pain, Abnormal red blood cell count	NT_025741.15
2672	rs7147286	N/A	NG_008647.1:g.15878C>T	GCH1	Modifier	Pain	NG_008647.1	15878
2669	rs12720497	N/A	NG_012203.1:g.37389C>T	PLA2G4A	Modifier	Pain	NG_012203.1	37389
2572	rs1801133 (C677T)	N/A	NG_013351.1:g.14783C>T	MTHFR	Modifier	Osteonecrosis/Avascular necrosis, Abnormal circulating homocysteine concentration, Pain	NG_013351.1	14783
3198	rs17778257	N/A	NG_016421.1:g.3422A>T	ADRB2	Modifier	Pain	NG_016421.1	3422
3199	rs12654778	N/A	NG_016421.1:g.4586G>A	ADRB2	Modifier	Pain	NG_016421.1	4586
3200	rs11168070	N/A	NG_016421.1:g.4772G>C	ADRB2	Modifier	Pain	NG_016421.1	4772
3202	rs11959427	N/A	NG_016421.1:g.4873C>T	ADRB2	Modifier	Pain	NG_016421.1	4873
3203	rs1042711	N/A	NG_016421.1:g.5193C>T	ADRB2	Modifier	Pain	NG_016421.1	5193
3204	rs1801704	N/A	NG_016421.1:g.5220C>T	ADRB2	Modifier	Pain	NG_016421.1	5220
2686	rs1042713	N/A	NG_016421.1:g.5285A>G, NG_016421.1:g.5285A=	ADRB2	Modifier	Pain, RBC adhesion	NG_016421.1	5285
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain	N/A
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain	N/A
3146	rs1800587	N/A	NG_008850.1:g.5012C>T	ILA1	Modifier	Pain	NG_008850.1	5012
3328	rs165599	N/A	NC_000022.11:g.19969258G>A	COMT	Modifier	Pain	NG_011526.1	32519
3349	rs920829	N/A	NG_033890.1:g.15117G>A	TRPA1	Modifier	Pain	NG_033890.1	15117
3508	rs9933611	N/A	NG_012969.1:g.41011A>G	FTO	Modifier	Pain	NG_012969.1	41011
3497	rs3917296	N/A	NC_000002.12:g.102168373A>G	IL1R1	Modifier	Pain	NM_000877.4	0
3498	rs324035	N/A	NG_008842.2:g.54401T>G	DRD3	Modifier	Pain	NG_008842.2	54401
3499	rs10513478	N/A	NC_000003.12:g.155522876C>T	PLCH1	Modifier	Pain	NM_001130960.2	0
3500	rs11732673	N/A	NC_000004.12:g.2681328A>G	FAM193A	Modifier	Pain	NM_003704.3	0
3501	rs6858735	N/A	NC_000004.12:g.37914606C>T	TBC1D1	Modifier	Pain	NM_015173.4	0
3502	rs13113915	N/A	NC_000004.12:g.186544810G>A	MTNR1A	Modifier	Pain	NM_005958.4	0
3503	rs10942625	N/A	NG_007083.2:g.590532G>A	ADGRV1	Modifier	Pain	NG_007083.2	590532
3504	rs1851426	N/A	NG_008421.1:g.3873T>C	CYP3A4	Modifier	Pain	NG_008421.1	3873
3505	rs7034457	N/A	NG_029445.1:g.117539A>G	PCSK5	Modifier	Pain	NG_029445.1	117539
3506	rs7899453	N/A	NG_012633.1:g.11442C>A	RPS24	Modifier	Pain	NG_012633.1	11442
3507	rs11817401	N/A	NG_029120.1:g.95564G>A	SORCS1	Modifier	Pain	NG_029120.1	95564
3509	rs17101814	N/A	NC_000011.10:g.103991948	PDGFD	Modifier	Pain	NM_033135.4	0
3510	rs445683	N/A	NC_000017.11:g.76405440C>T	UBE2O	Modifier	Pain	NM_022066.4	0
3511	rs7507634	N/A	NC_000019.10:g.10325886C>T	RAVER1	Modifier	Pain	NM_133452.3	0
3512	rs2872817	N/A	NG_028264.1:g.39392A>G	TKTL1	Modifier	Pain	NG_028264.1	39392
3592	rs9324918	N/A	NG_009062.1:g.52918A>G	NR3C1	Modifier	Pain	NG_009062.1	52918
3591	rs2963155	N/A	NG_009062.1:g.64074T>C	NR3C1	Modifier	Pain	NG_009062.1	64074
3590	rs33389	N/A	NG_009062.1:g.119579G>A	NR3C1	Modifier	Pain	NG_009062.1	119579
3618	rs9722	N/A	NC_000021.9:g.46599326G>A	S100B	Modifier	Pain	NM_006272.3
3619	rs1051169	N/A	NC_000021.9:g.46602317C>G	S100B	Modifier	Pain	NM_006272.3
3620	rs9983698	N/A	NC_000021.9:g.46598630C>T	S100B	Modifier	Pain	NM_006272.3
3621	rs11911834	N/A	NC_000021.9:g.46602608G>T	S100B	Modifier	Pain	NM_006272.3

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