IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries in chromosome 1 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2133	rs10494225	N/A	NG_011967.1:g.11702C>G	HAO2	Modifier	Hb F response to hydroxyurea	NG_011967.1	11702
3332	rs4025935	N/A	NG_009246.1:g.4023_4024delTG	GSTM1	Modifier	Cardiac iron load, Anaemia	NG_009246.1	4023
3905	rs3103333	N/A	NC_000001.11:g.91836023G>A \| NC_000001.11:g.91836023G>C	TGFBR3	Modifier	Priapism	NG_027757.1
2606	rs284157	N/A	NG_027757.1:g.104640G>A	TGFBR3	Modifier	Acute chest syndrome, Osteonecrosis/Avascular necrosis	NG_027757.1	104640
2904	rs17443164	N/A	NG_027757.1:g.130512G>C	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	130512
2609	rs10874940	N/A	NG_027757.1:g.134374G>A	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	134374
2607	rs7526590	N/A	NG_027757.1:g.155106T>A	TGFBR3	Modifier	Priapism, Pulmonary arterial hypertension	NG_027757.1	155106
2608	rs2038931	N/A	NG_027757.1:g.202145C>T	TGFBR3	Modifier	Leg ulcers	NG_027757.1	202145
2610	rs284875	N/A	NG_027757.1:g.205852T>C	TGFBR3	Modifier	Stroke	NG_027757.1	205852
2612	rs2007686	N/A	NG_027757.1:g.214117G>A	TGFBR3	Modifier	Stroke	NG_027757.1	214117
2613	rs2765888	N/A	NG_027757.1:g.214268G>A	TGFBR3	Modifier	Bacteremia, Stroke	NG_027757.1	214268
2657	rs3753306	N/A	NG_012125.1:g.4146A>G	SELP	Modifier	Stroke	NG_012125.1	4146
2901	rs6131	N/A	NG_012125.1:g.23493G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	23493
2656	rs3917733	N/A	NG_012125.1:g.23868G>A	SELP	Modifier	Stroke	NG_012125.1	23868
2900	rs2235302	N/A	NG_012125.1:g.24088G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	24088
2655	rs2420378	N/A	NG_012125.1:g.34460T>A	SELP	Modifier	Stroke	NG_012125.1	34460
2895	rs6663530	N/A	NG_007481.1:g.96969G>A	CR1	Modifier	Pulmonary arterial hypertension	NG_007481.1	96969
3205	rs2814778	N/A	NG_011626.2:g.5174T>C	ACKR1	Modifier	Albuminuria, Abnormal white blood cell count, Abnormal neutrophil cell number	NG_011626.1	5174
2669	rs12720497	N/A	NG_012203.1:g.37389C>T	PLA2G4A	Modifier	Pain	NG_012203.1	37389
2599	rs212531	N/A	NG_013008.1:g.88757C>T	ECE1	Modifier	Stroke	NG_013008.1	88757
2598	rs212528	N/A	NG_013008.1:g.91374A>G	ECE1	Modifier	Stroke	NG_013008.1	91374
2597	rs212527	N/A	NG_013008.1:g.92021G>A	ECE1	Modifier	Osteonecrosis/Avascular necrosis	NG_013008.1	92021
3898	rs1409419	N/A	NC_000001.11:g.100717840T>C	VCAM1	Modifier	Stroke	NG_023034.2	3100
2665	rs1041163 (−1594T>C)	N/A	NG_023034.2:g.3529T>C	VCAM1	Modifier	Stroke	NG_023034.2	3529
2667	rs3783613 (G1238C)	N/A	NG_023034.2:g.16491G>C	VCAM1	Modifier	Stroke	NG_023034.2	16491
2572	rs1801133 (C677T)	N/A	NG_013351.1:g.14783C>T	MTHFR	Modifier	Abnormal circulating homocysteine concentration, Pain, Osteonecrosis/Avascular necrosis	NG_013351.1	14783
2925	rs186996510 (12C>G)	N/A	NG_015865.1:g.8168C>G	EGLN1	Modifier	Anaemia	NG_015865.1	8168
2942	rs699	N/A	NG_008836.1:g.9543T>C	AGT	Modifier	Stroke	NG_008836.1	9543
3115	rs6025	N/A	NG_011806.1:g.41721G>A	F5	Modifier	Thromboembolism	NG_011806.1	41721
3117	rs5361	N/A	NG_012124.1:g.7161A>C	SELE	Modifier	Thromboembolism	NG_012124.1	7161
3125	rs5877	N/A	NG_012462.1:g.12655A>G	SERPINC1	Modifier	Thromboembolism	NG_012462.1	12655
3329	rs2227617	N/A	NG_012462.1:g.17458C>T	SERPINC1	Modifier	Pulmonary arterial hypertension	NG_012462.1	17458
4004	rs7526762	N/A	NC_000001.11:g.74527634A>G	FPGT-TNNI3K	Modifier	Abnormal GFR	N/A
3979	PUM1:p.H1090Pfs*16	N/A	NC_000001.11:g.30936810_30936813del, NM_001020658.2(PUM1):c.3267_3270del	PUM1	Modifier	Hb F levels	N/A
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension	N/A
3670	rs584297	N/A	NC_000001.11:g.226520780T>C	LOC105373115	Modifier	F-cell numbers	N/A
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension	N/A
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke	N/A	0
3211	rs12094024	N/A	NG_007939.1:g.21183A>C	CYP4B1	Modifier	Abnormal GFR	NG_007939.1	21183
3551	FCGR2C.nc-ORF	N/A	NG_011982.1:g.[13259C>T;19253A>G]	FCGR2C	Modifier	Red blood cell alloimmunisation	NG_011982.1	13259, 19253
3352	rs951781	N/A	NG_012300.1:g.10653G>A	NES	Modifier	Abnormal white blood cell count, Abnormal neutrophil cell number	NG_012300.1	10653
3438	rs12568784	N/A	NC_000001.11:g.152350656G>T	FLG2	Modifier	Leg ulcers	NM_001014342.2	7130
3451	rs17843865	N/A	NG_011844.2:g.38134A>G	ADAR	Modifier	Hb F response to hydroxyurea	NG_011844.2	38134
3458	rs113596156	N/A	NC_000001.11:g.1179319G>A	TTLL10	Modifier	Hb F response to hydroxyurea	NM_001130045.2	0
3463	rs16859886	N/A	NG_016139.1:g.22583C>T	ADCY10	Modifier	Hb F response to hydroxyurea	NG_016139.1	22583
3466	rs10399947	N/A	NC_000001.11:g.150889484G>A	CTXND2	Modifier	Acute chest syndrome	NR_148929.1	0
3642	rs2279638	N/A	NC_000001.11:g.220828445G>A	LINC01352	Modifier	F-cell numbers	NR_110797.1
3807	rs483850	N/A	NC_000001.11:g.206916626T>A	FCMR	Modifier	Severity	NM_005449.5
3910	rs2250806	N/A	NC_000001.11:g.84130407A>G	PRKACB	Modifier	Stroke	NG_029728.1

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.