IthaGenes

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Showing all entries with clinican phenotype Pulmonary arterial hypertension (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3330	rs1888057	N/A	NG_011485.1:g.37125C>T	KL	Modifier	Pulmonary arterial hypertension	NG_011485.1	37125
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	Pulmonary arterial hypertension, Priapism	NG_027757.1	155106
3549	27bp-VNTR (eNOS4a/b)	N/A	NG_011992.1:g.11166_11192[4]	NOS3	Modifier	Abnormal neutrophil cell number, Red blood cell aggregation, Vaso-occlusive crisis, Pulmonary arterial hypertension, Stroke	NG_011992.1	11166
2897	rs5923	N/A	NG_009778.1:g.9063C>T	LCAT	Modifier	Pulmonary arterial hypertension	NG_009778.1	9063
2901	rs6131	N/A	NG_012125.1:g.23493G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	23493
2900	rs2235302	N/A	NG_012125.1:g.24088G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	24088
2649	rs706814	N/A	NG_009549.1:g.14642A>T	ACVRL1	Modifier	Pulmonary arterial hypertension	NG_009549.1	14642
2648	rs1801253	N/A	NG_012187.1:g.6251G>C	ADRB1	Modifier	Pulmonary arterial hypertension	NG_012187.1	6251
2908	rs1624292	N/A	NG_029954.1:g.65626T>C	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	65626
2907	rs559046	N/A	NG_029954.1:g.68394A>G	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	68394
2902	rs426634	N/A	NG_007951.1:g.63342G>A	SLC12A6	Modifier	Pulmonary arterial hypertension	NG_007951.1	63342
2903	rs9804777	N/A	NG_042166.1:g.23055A>G	ADCY6	Modifier	Pulmonary arterial hypertension	NG_042166.1	23055
2895	rs6663530	N/A	NG_007481.1:g.96969G>A	CR1	Modifier	Pulmonary arterial hypertension	NG_007481.1	96969
3113	rs5370 (5665G>T)	N/A	NG_016196.1:g.10727G>T	EDN1	Modifier	Vaso-occlusive crisis, Pulmonary arterial hypertension, Acute chest syndrome	NG_016196.1	10727
2905	rs35711585	N/A	NG_009363.1:g.174302G>C	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	174302
2885	rs17199249	N/A	NG_009363.1:g.190619T>G	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	190619
2921	rs1143634 (+3954 C>T)	N/A	NG_008851.1:g.8967C>T	IL1B	Modifier	Pulmonary arterial hypertension, Reticulocytopenia, Osteonecrosis/Avascular necrosis	NG_008851.1	8967
3329	rs2227617	N/A	NG_012462.1:g.17458C>T	SERPINC1	Modifier	Pulmonary arterial hypertension	NG_012462.1	17458
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension	N/A
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Pulmonary arterial hypertension, Stroke	N/A
3196	rs1478605	N/A	NC_000015.10:g.39581083G>A	THBS1	Modifier	Pulmonary arterial hypertension	N/A
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension	N/A
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension	N/A
2938	rs7208480	N/A	NC_000017.11:g.15770470C>T	ADORA2B	Modifier	Pulmonary arterial hypertension	N/A
2937	rs9808145	N/A	NC_000002.12:g.154425689T>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2936	rs16833378	N/A	NC_000002.12:g.153515514A>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2935	rs13407922	N/A	NC_000002.12:g.154425285G>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2934	rs10497120	N/A	NC_000002.12:g.153513398A>C	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2933	rs799813	N/A	NC_000002.12:g.154354666C>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A

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