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Showing all entries in chromosome 4 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2614 | rs2240036 | N/A | NG_009245.1:g.157293T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 157293 |
2615 | rs4145993 | N/A | NG_009245.1:g.242152T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 242152 |
2616 | rs17022863 | N/A | NG_009245.1:g.265607A>G | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 265607 |
2617 | rs1434549 | N/A | NG_009245.1:g.336782T>C | BMPR1B | Modifier | Abnormal GFR | NG_009245.1 | 336782 |
2618 | rs1560909 | N/A | NG_009245.1:g.346101A>G | BMPR1B | Modifier | Leg ulcers | NG_009245.1 | 346101 |
2619 | rs7661539 | N/A | NG_009245.1:g.354928C>T | BMPR1B | Modifier | Leg ulcers | NG_009245.1 | 354928 |
2745 | rs2305948 | N/A | NG_012004.1:g.17205G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 17205 |
2744 | rs7654599 | N/A | NG_012004.1:g.20595G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 20595 |
2743 | rs6828477 | N/A | NG_012004.1:g.29962G>A | KDR | Modifier | Hb F levels | NG_012004.1 | 29962 |
2742 | rs6554233 | N/A | NG_012004.1:g.31044T>C | KDR | Modifier | Hb F levels | NG_012004.1 | 31044 |
2906 | rs2068991 | N/A | NG_042284.1:g.25565T>G | SMAD1 | Modifier | Acute chest syndrome | NG_042284.1 | 25565 |
2943 | rs2282786 | N/A | NG_011441.1:g.93457T>C | EGF | Modifier | Abnormal platelet count | NG_011441.1 | 93457 |
3119 | rs13146272 | N/A | NG_007965.1:g.12538C>A | CYP4V2 | Modifier | Thromboembolism | NG_007965.1 | 12538 |
3130 | rs61746132 | N/A | NC_000004.12:g.154235260G>A | DCHS2 | Modifier | Hb F response to hydroxyurea | N/A | |
3579 | rs3115229 | N/A | NC_000004.12:g.122088578T>C | TRPC3-KIAA1109 | Modifier | Vaso-occlusive crisis | N/A | |
3639 | rs10017284 | N/A | NC_000004.12:g.120592060A>G | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
3641 | rs1845344 | N/A | NC_000004.12:g.120041230G>T | PDE5A-MAD2L1 | Modifier | F-cell numbers | N/A | |
3660 | rs4395533 | N/A | NC_000004.12:g.120560795G>A | SAR1AP3-PRDM5 | Modifier | F-cell numbers | N/A | |
3526 | rs9760319 | N/A | NC_000004.12:g.137491375A>G | RPS23P2-PCDH18 | Modifier | Abnormal white blood cell count | N/A | 0 |
3245 | rs4696480 | N/A | NG_016229.1:g.6686T>A | TLR2 | Modifier | Recurrent respiratory infections | NG_016229.1 | 6686 |
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 |
4054 | rs950310 | N/A | NC_000004.12:g.9841226T>A | SLC2A9 | Modifier | Severity | NG_011540.2 |
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IthaGenes was last updated on 2024-11-20 13:24:07