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Showing all entries with clinican phenotype Pain (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2127 | -158 C>T (rs7482144, XmnI) | N/A | NG_000007.3:g.42677C>T | Gγ | Modifier | F-cell numbers, Severity, Anaemia, Hb F levels, Pain, Hb F response to hydroxyurea | NG_000007.3 | 42677 |
2067 | rs7557939 | N/A | NG_011968.1:g.64287C>T | BCL11A | Modifier | Anaemia, Pain, Hb F levels | NG_011968.1 | 64287 |
2065 | rs11886868 | N/A | NG_011968.1:g.65388G>A | BCL11A | Modifier | Pain, Hb F levels, Anaemia | NG_011968.1 | 65388 |
2072 | rs766432 | N/A | NG_011968.1:g.65664G>T | BCL11A | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea | NG_011968.1 | 65664 |
2071 | rs1427407 | N/A | NG_011968.1:g.67591A>C | BCL11A | Modifier | Abnormal platelet count, Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Anaemia, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia | NG_011968.1 | 67591 |
3912 | rs7776196 | N/A | NC_000006.12:g.135097850A>G | HBS1L-MYB | Modifier | Pain | 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, Pain, Abnormal red blood cell count | NT_025741.15 | |
2672 | rs7147286 | N/A | NG_008647.1:g.15878C>T | GCH1 | Modifier | Pain | NG_008647.1 | 15878 |
2669 | rs12720497 | N/A | NG_012203.1:g.37389C>T | PLA2G4A | Modifier | Pain | NG_012203.1 | 37389 |
2572 | rs1801133 (C677T) | N/A | NG_013351.1:g.14783C>T | MTHFR | Modifier | Osteonecrosis/Avascular necrosis, Abnormal circulating homocysteine concentration, Pain | NG_013351.1 | 14783 |
3198 | rs17778257 | N/A | NG_016421.1:g.3422A>T | ADRB2 | Modifier | Pain | NG_016421.1 | 3422 |
3199 | rs12654778 | N/A | NG_016421.1:g.4586G>A | ADRB2 | Modifier | Pain | NG_016421.1 | 4586 |
3200 | rs11168070 | N/A | NG_016421.1:g.4772G>C | ADRB2 | Modifier | Pain | NG_016421.1 | 4772 |
3202 | rs11959427 | N/A | NG_016421.1:g.4873C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 4873 |
3203 | rs1042711 | N/A | NG_016421.1:g.5193C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5193 |
3204 | rs1801704 | N/A | NG_016421.1:g.5220C>T | ADRB2 | Modifier | Pain | NG_016421.1 | 5220 |
2686 | rs1042713 | N/A | NG_016421.1:g.5285A>G, NG_016421.1:g.5285A= | ADRB2 | Modifier | Pain, RBC adhesion | NG_016421.1 | 5285 |
2678 | rs8007267 | N/A | NC_000014.9:g.54912273C>T | GCH1 | Modifier | Pain | N/A | |
3197 | rs10877969 | N/A | NC_000012.12:g.63153459T>C | AVPR1A | Modifier | Pain | N/A | |
3146 | rs1800587 | N/A | NG_008850.1:g.5012C>T | ILA1 | Modifier | Pain | NG_008850.1 | 5012 |
3328 | rs165599 | N/A | NC_000022.11:g.19969258G>A | COMT | Modifier | Pain | NG_011526.1 | 32519 |
3349 | rs920829 | N/A | NG_033890.1:g.15117G>A | TRPA1 | Modifier | Pain | NG_033890.1 | 15117 |
3508 | rs9933611 | N/A | NG_012969.1:g.41011A>G | FTO | Modifier | Pain | NG_012969.1 | 41011 |
3497 | rs3917296 | N/A | NC_000002.12:g.102168373A>G | IL1R1 | Modifier | Pain | NM_000877.4 | 0 |
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 |
3500 | rs11732673 | N/A | NC_000004.12:g.2681328A>G | FAM193A | Modifier | Pain | NM_003704.3 | 0 |
3501 | rs6858735 | N/A | NC_000004.12:g.37914606C>T | TBC1D1 | Modifier | Pain | NM_015173.4 | 0 |
3502 | rs13113915 | N/A | NC_000004.12:g.186544810G>A | MTNR1A | Modifier | Pain | NM_005958.4 | 0 |
3503 | rs10942625 | N/A | NG_007083.2:g.590532G>A | ADGRV1 | Modifier | Pain | NG_007083.2 | 590532 |
3504 | rs1851426 | N/A | NG_008421.1:g.3873T>C | CYP3A4 | Modifier | Pain | NG_008421.1 | 3873 |
3505 | rs7034457 | N/A | NG_029445.1:g.117539A>G | PCSK5 | Modifier | Pain | NG_029445.1 | 117539 |
3506 | rs7899453 | N/A | NG_012633.1:g.11442C>A | RPS24 | Modifier | Pain | NG_012633.1 | 11442 |
3507 | rs11817401 | N/A | NG_029120.1:g.95564G>A | SORCS1 | Modifier | Pain | NG_029120.1 | 95564 |
3509 | rs17101814 | N/A | NC_000011.10:g.103991948 | PDGFD | Modifier | Pain | NM_033135.4 | 0 |
3510 | rs445683 | N/A | NC_000017.11:g.76405440C>T | UBE2O | Modifier | Pain | NM_022066.4 | 0 |
3511 | rs7507634 | N/A | NC_000019.10:g.10325886C>T | RAVER1 | Modifier | Pain | NM_133452.3 | 0 |
3512 | rs2872817 | N/A | NG_028264.1:g.39392A>G | TKTL1 | Modifier | Pain | NG_028264.1 | 39392 |
3592 | rs9324918 | N/A | NG_009062.1:g.52918A>G | NR3C1 | Modifier | Pain | NG_009062.1 | 52918 |
3591 | rs2963155 | N/A | NG_009062.1:g.64074T>C | NR3C1 | Modifier | Pain | NG_009062.1 | 64074 |
3590 | rs33389 | N/A | NG_009062.1:g.119579G>A | NR3C1 | Modifier | Pain | NG_009062.1 | 119579 |
3618 | rs9722 | N/A | NC_000021.9:g.46599326G>A | S100B | Modifier | Pain | NM_006272.3 | |
3619 | rs1051169 | N/A | NC_000021.9:g.46602317C>G | S100B | Modifier | Pain | NM_006272.3 | |
3620 | rs9983698 | N/A | NC_000021.9:g.46598630C>T | S100B | Modifier | Pain | NM_006272.3 | |
3621 | rs11911834 | N/A | NC_000021.9:g.46602608G>T | S100B | Modifier | Pain | NM_006272.3 |
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IthaGenes was last updated on 2024-12-03 11:48:06