IthaGenes

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Showing all entries with clinican phenotype Acute chest syndrome (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
3911	rs796512567	N/A	NC_000006.12:g.135097900_135097901delinsA	HBS1L-MYB	Modifier	Acute chest syndrome, Hb F levels	NT_025741.15
2101	rs9402686	N/A	NC_000006.12:g.135106679G>A	HBS1L-MYB	Modifier	Acute chest syndrome, Hb F levels	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, Abnormal red blood cell count, Pain	NT_025741.15
2789	rs3074372	N/A	NG_023030.1:g.4828_4829insGT	HMOX1	Modifier	Acute chest syndrome	NG_023030.1	4828
2788	rs12160039	N/A	NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C	HMOX1	Modifier	Acute chest syndrome	NG_023030.1	18226
3543	rs656525	N/A	NG_011485.1:g.37107A>C	KL	Modifier	Acute chest syndrome	NG_011485.1	37107
2606	rs284157	N/A	NG_027757.1:g.104640G>A	TGFBR3	Modifier	Osteonecrosis/Avascular necrosis, Acute chest syndrome	NG_027757.1	104640
2650	rs2070744 (T786C, -786T>C)	N/A	NG_011992.1:g.6933C>T	NOS3	Modifier	Retinopathy, Acute chest syndrome, Bilirubin levels, Recurrent upper respiratory tract infections, Reticulocytosis, Delayed menarche, Increased lactate dehydrogenase activity	NG_011992.1	6933
2906	rs2068991	N/A	NG_042284.1:g.25565T>G	SMAD1	Modifier	Acute chest syndrome	NG_042284.1	25565
3114	T8002C	N/A	N/A	EDN1	Modifier	Acute chest syndrome	NG_016196.1	8002
3113	rs5370 (5665G>T)	N/A	NG_016196.1:g.10727G>T	EDN1	Modifier	Acute chest syndrome, Pulmonary arterial hypertension, Vaso-occlusive crisis	NG_016196.1	10727
2769	rs736839	N/A	NC_000018.10:g.49001695C>T	SMAD7	Modifier	Leg ulcers, Acute chest syndrome	N/A
2679	rs17728960	N/A	NC_000020.11:g.51513177T>C	NFATC2	Modifier	Acute chest syndrome	N/A
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Hb F levels, Acute chest syndrome	N/A
3477	rs9927848	N/A	NC_000016.10:g.23821750C>A	CHP2-PRKCB	Modifier	Acute chest syndrome	N/A	0
3545	rs12536620	N/A	NG_050579.1:g.44506A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3544	rs1526083	N/A	NG_050579.1:g.9354A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3479	rs6141803	N/A	NC_000020.11:g.32752550T>C	COMMD7-DNMT3B	Modifier	Acute chest syndrome	N/A	0
3475	rs1176758	N/A	NC_000011.10:g.113899633G>A	HTRB3	Modifier	Acute chest syndrome	N/A	0
3466	rs10399947	N/A	NC_000001.11:g.150889484G>A	CTXND2	Modifier	Acute chest syndrome	NR_148929.1	0
3467	rs34661029	N/A	NC_000002.12:g.60921853C>G	REL	Modifier	Acute chest syndrome	NM_002908.4	0
3468	rs17749316	N/A	NG_008294.1:g.43268G>C	STAT1	Modifier	Acute chest syndrome	NG_008294.1	43268
3469	rs13021001	N/A	NG_042235.1:g.34942T>C	GPR17	Modifier	Acute chest syndrome	NM_001161415.1	34942
3471	rs3910551	N/A	NG_029729.1:g.96079G>C	ALCAM	Modifier	Acute chest syndrome	NG_029729.1	96079
3472	rs5030094	N/A	NG_016009.1:g.31061T>C	KNG1	Modifier	Acute chest syndrome	NG_016009.1	31061
3473	rs10478813	N/A	NG_008750.1:g.47471C>G	FBN2	Modifier	Acute chest syndrome	NG_008750.1	47471
3474	rs5576	N/A	NG_016148.1:g.12545A>G	NPY	Modifier	Acute chest syndrome	NG_016148.1	12545
3476	rs6309	N/A	NG_013011.1:g.5570T>A	HTR2A	Modifier	Acute chest syndrome	NG_013011.1	5570
3478	rs12447481	N/A	NG_012969.1:g.16095T>G	FTO	Modifier	Acute chest syndrome	NG_012969.1	16095
3480	rs16998437	N/A	NG_012857.1:g.401T>G	NOL12	Modifier	Acute chest syndrome	NM_024313.3	401

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