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Showing all entries in chromosome 3 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2604 | rs1019856 | N/A | NG_007490.1:g.53823T>C | TGFBR2 | Modifier | Osteonecrosis/Avascular necrosis, Stroke, Leg ulcers | NG_007490.1 | 53823 |
2605 | rs934328 | N/A | NG_007490.1:g.64751G>A | TGFBR2 | Modifier | Osteonecrosis/Avascular necrosis | NG_007490.1 | 64751 |
2929 | rs3773658 | N/A | NG_007490.1:g.81443A>G | TGFBR2 | Modifier | Stroke | NG_007490.1 | 81443 |
2928 | rs876687 | N/A | NG_007490.1:g.82652T>C | TGFBR2 | Modifier | Stroke | NG_007490.1 | 82652 |
3097 | rs1867504 | N/A | NG_008673.3:g.196A>G | TF | Modifier | Increased serum ferritin, Anaemia | NG_013080.1 | 196 |
3098 | rs1799852 | N/A | NG_013080.1:g.15746C>T | TF | Modifier | Decreased serum ferritin | NG_013080.1 | 15746 |
3099 | rs3811658 | N/A | NG_013080.1:g.16876C>T | TF | Modifier | Anaemia | NG_013080.1 | 16876 |
3124 | rs747259055 | N/A | NG_009813.1:g.82497G>A | PROS1 | Modifier | Thromboembolism | NG_009813.1 | 82497 |
4053 | rs6443662 | N/A | NC_000003.12:g.179633577C>T | NDUFB5-USP13 | Modifier | Severity | N/A | |
3300 | rs6777055 | N/A | NC_000003.12:g.55039890A>C | CACNA2D3 | Modifier | Vaso-occlusive crisis | N/A | |
2930 | rs3732410 (Y1212C) | N/A | NC_000003.12:g.121696873T>C | GOLGB1 | Modifier | Stroke | N/A | |
3221 | rs13080125 | N/A | NG_009227.1:g.82390T>C | PAK2 | Modifier | Hb F levels | NG_009227.1 | 82390 |
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 |
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 |
3521 | rs10936603 | N/A | NC_000003.12:g.169827864G>T | LRRIQ4 | Modifier | Abnormal white blood cell count | NM_001080460.2 | 0 |
3530 | rs13091574 | N/A | NG_012136.1:g.8828T>G | THPO | Modifier | Abnormal platelet count | NG_012136.1 | 8828 |
3650 | rs10510789 | N/A | NC_000003.12:g.56843760C>T | ARHGEF3 | Modifier | F-cell numbers | NM_019555.3 | |
3809 | rs370898 | N/A | NC_000003.12:g.21426209C>A | ZNF385D | Modifier | Severity | NM_024697.3 | |
3904 | rs190103771 | N/A | NC_000003.12:g.175698311A>G | NAALADL2 | Modifier | Priapism | NM_207015.3 | |
4052 | rs903047 | N/A | NC_000003.12:g.131033165A>G | NEK11 | Modifier | Severity | NG_029225.1 |
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IthaGenes was last updated on 2024-11-20 13:24:07