IthaGenes

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Showing all entries in chromosome 22 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3343	rs743811	N/A	NC_000022.10:g.35792974T>C	HMOX1	Modifier	Albuminuria, Abnormal GFR	NG_023030.1
2120	-495 (A>T) (rs2071746)	N/A	NG_023030.1:g.4613A>T	HMOX1	Modifier	Stroke, Vaso-occlusive crisis, Hb F levels	NG_023030.1	4613
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
2623	rs713753	N/A	NG_023228.1:g.14418C>T	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	14418
2594	rs2239785	N/A	NG_023228.1:g.17214G>A	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	17214
2593	rs73885319 (APOL1 G1)	N/A	NG_023228.1:g.17790A>G	APOL1	Modifier	Stroke, Abnormal GFR, Albuminuria, Proteinuria, Focal segmental glomerulosclerosis	NG_023228.1	17790
3206	rs71785313 (APOL1 G2)	N/A	NG_023228.1:g.17930_17935delTTATAA	APOL1	Modifier	Abnormal GFR, Proteinuria, Albuminuria	NG_023228.1	17930
3548	rs933224	N/A	NG_011884.2:g.23061A>G	MYH9	Modifier	Abnormal GFR	NG_011884.2	23061
2641	rs16996672	N/A	NG_011884.2:g.63094G>A	MYH9	Modifier	Proteinuria, Focal segmental glomerulosclerosis	NG_011884.2	63094
2640	rs1005570	N/A	NG_011884.2:g.73790T>C	MYH9	Modifier	Proteinuria	NG_011884.2	73790
2639	rs8141189	N/A	NG_011884.2:g.74354A>T	MYH9	Modifier	Proteinuria	NG_011884.2	74354
2646	rs8141971	N/A	NG_011884.2:g.77702T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	77702
2645	rs4820230	N/A	NG_011884.2:g.79525C>T	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	79525
2644	rs2157256	N/A	NG_011884.2:g.81403T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	81403
2638	rs1557529	N/A	NG_011884.2:g.83535T>C	MYH9	Modifier	Proteinuria	NG_011884.2	83535
2637	rs5750248	N/A	NG_011884.2:g.86173A>G	MYH9	Modifier	Proteinuria	NG_011884.2	86173
2642	rs4821481	N/A	NG_011884.2:g.93123G>A	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	93123
2636	rs16996648	N/A	NG_011884.2:g.96313A>G	MYH9	Modifier	Proteinuria	NG_011884.2	96313
2635	rs11912763	N/A	NG_011884.2:g.104343C>T	MYH9	Modifier	Proteinuria	NG_011884.2	104343
3653	rs3892097	N/A	NG_008376.3:g.6047G>A	CYP2D6	Modifier	Response to hydroxyurea	NG_008376.3	6047
3491	rs2076086	N/A	NG_012856.2:g.40068G>A	TMPRSS6	Modifier	Abnormal Hb	NG_012856.2	40068
3082	rs2413450	N/A	NG_012856.2:g.40380A>G	TMPRSS6	Modifier	Anaemia	NG_012856.2	40380
3083	rs4820268	N/A	NG_012856.2:g.41013C>T	TMPRSS6	Modifier	Anaemia	NG_012856.2	41013
3085	rs200434923	N/A	NG_012856.2:g.45214_45218delCCCCA	TMPRSS6	Modifier	Abnormal hepcidin level	NG_012856.2	45214
3084	rs855791	N/A	NG_012856.2:g.47668T>C	TMPRSS6	Modifier	Abnormal hepcidin level	NG_012856.2	47668
3908	rs201658643	N/A	NC_000022.11:g.34468965_34468966dup	LOC105373012-LOC441996	Modifier	Stroke	N/A
2884	rs4821475	N/A	NC_000022.11:g.36273049C>T	APOL1-MYH9	Modifier	Focal segmental glomerulosclerosis	N/A
2883	rs4821469	N/A	NC_000022.11:g.36220399T>C	APOL4-APOL2	Modifier	Focal segmental glomerulosclerosis	N/A
3219	rs557939075	N/A	NG_009929.2:g.459084_459085insA	LARGE1	Modifier	Hb F levels	NG_009929.2	459084
3328	rs165599	N/A	NC_000022.11:g.19969258G>A	COMT	Modifier	Pain	NG_011526.1	32519
3480	rs16998437	N/A	NG_012857.1:g.401T>G	NOL12	Modifier	Acute chest syndrome	NM_024313.3	401
3527	rs1977081	N/A	NG_008631.1:g.15510T>C	PNPLA3	Modifier	Abnormal platelet count	NG_008631.1	15510
3649	rs140518	N/A	NC_000022.11:g.50560753C>T	SYCE3	Modifier	F-cell numbers	NM_001123225.3

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