| geneid | 100507747 |
|---|---|
| ensemblid | ENSG00000283199.3 |
| hgncid | 53786 |
| symbol | C13orf46 |
| name | chromosome 13 open reading frame 46 |
| refseq_nuc | NM_001365455.2 |
| refseq_prot | NP_001352384.1 |
| ensembl_nuc | ENST00000636427.3 |
| ensembl_prot | ENSP00000490032.2 |
| mane_status | MANE Select |
| chr | chr13 |
| start | 113953705 |
| end | 113974076 |
| strand | - |
| ver | v1.2 |
| region | chr13:113953705-113974076 |
| region5000 | chr13:113948705-113979076 |
| regionname0 | C13orf46_chr13_113953705_113974076 |
| regionname5000 | C13orf46_chr13_113948705_113979076 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:113954020
|
G | T | 0.4855 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(198): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(120): Show | 201 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*2753C>A | 2753 | |||||
|
chr13:113954117
|
G | A | 0.0556 | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016a0001c0001t0017others(3): Show | a0001c0001t0006g0005a0001c0001t0006g0098a0001c0001t0006g0099others(10): Show | 23 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*2656C>T | 2656 | |||||
|
chr13:113954158
|
A | G | 0.9565 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(393): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(108): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(232): Show | 396 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*2615T>C | 2615 | |||||
|
chr13:113954823
|
GGTGGAGA others(21): Show |
G | 0.3237 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(131): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(72): Show | 134 | 414 | -28 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1922_*1949delATCTCCACCGGATGCTCCTCATCTCCAC | 1922 | |||||
|
chr13:113954957
|
C | T | 0.3068 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 127 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1816G>A | 1816 | |||||
|
chr13:113954987
|
GAGGATCT others(16): Show |
G | 0.2947 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(119): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(65): Show | 122 | 414 | -23 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1763_*1785delACTCCTCCTCTCTGCCAGATCCT | 1763 | |||||
|
chr13:113955173
|
G | C | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1600C>G | 1600 | |||||
|
chr13:113955201
|
C | T | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1572G>A | 1572 | |||||
|
chr13:113955313
|
G | GAGT | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 3 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1457_*1459dupACT | 1459 | |||||
|
chr13:113955435
|
T | C | 0.3551 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(144): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(82): Show | 147 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1338A>G | 1338 | |||||
|
chr13:113955535
|
CGAGGAGC others(13): Show |
C | 0.0483 | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00741.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0219others(13): Show | 20 | 414 | -20 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1218_*1237delCTCTCCACGAGATGCTCCTC | 1218 | |||||
|
chr13:113955574
|
A | C | 0.4638 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(114): Show | 192 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1199T>G | 1199 | |||||
|
chr13:113955583
|
ATCTCGTG others(36): Show |
A | 0.4638 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(114): Show | 192 | 414 | -43 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1147_*1189delCACTACTCCTCGTCTCTGCCAGATGCTCCTCCGCTCCACGAGA | 1147 | |||||
|
chr13:113955633
|
G | A | 0.4686 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(191): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(51): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(115): Show | 194 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1140C>T | 1140 | |||||
|
chr13:113955639
|
GAGGAGTA others(16): Show |
G | 0.0894 | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0219others(25): Show | 37 | 414 | -23 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1111_*1133delTGTCTCTGCCAGACACTACTCCT | 1111 | |||||
|
chr13:113955656
|
A | G | 0.4300 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(175): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(105): Show | 178 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1117T>C | 1117 | |||||
|
chr13:113955662
|
A | G | 0.8792 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(361): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(212): Show | 364 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*1111T>C | 1111 | |||||
|
chr13:113955777
|
G | A | 0.3841 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(156): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(90): Show | 159 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*996C>T | 996 | |||||
|
chr13:113955808
|
G | A | 0.3816 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(155): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(89): Show | 158 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*965C>T | 965 | |||||
|
chr13:113955908
|
A | G | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*865T>C | 865 | |||||
|
chr13:113955970
|
C | T | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*803G>A | 803 | |||||
|
chr13:113956040
|
A | G | 0.5145 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(210): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(57): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(126): Show | 213 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*733T>C | 733 | |||||
|
chr13:113956117
|
G | T | 0.3092 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(70): Show | 128 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*656C>A | 656 | |||||
|
chr13:113956178
|
A | G | 0.5193 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(212): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(128): Show | 215 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*595T>C | 595 | |||||
|
chr13:113956263
|
A | G | 0.5193 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(212): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(128): Show | 215 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*510T>C | 510 | |||||
|
chr13:113956341
|
G | GAGT | 0.2633 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(58): Show | 109 | 414 | 3 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*429_*431dupACT | 431 | |||||
|
chr13:113956347
|
TATCTGGT others(10): Show |
T | 0.0507 | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01069.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0219others(15): Show | 21 | 414 | -17 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*409_*425delCCTCCTCTCCACCAGAT | 409 | |||||
|
chr13:113956347
|
TATCTGGT others(13): Show |
T | 0.2585 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(104): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0008a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(56): Show | 107 | 414 | -20 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*406_*425delGCTCCTCCTCTCCACCAGAT | 406 | |||||
|
chr13:113956367
|
C | T | 0.0531 | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01069.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0219others(16): Show | 22 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*406G>A | 406 | |||||
|
chr13:113956547
|
A | G | 0.5169 | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(211): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(127): Show | 214 | 414 | 0 | C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | c.*226T>C | 226 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C13orf46 | 1/1 | a0001 | 212 | 390 | 88 | 82 | 159 | 16 | 43 | subcellular location copy fasta | chr13 | 113948705 | 113979076 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C13orf46 | 1/1 | c0001 | 639 | 389 | 88 | 82 | 158 | 16 | 43 | copy fasta | chr13 | 113948705 | 113979076 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C13orf46 | 0/0 | t0017 | 3040 | 5 | 4 | 0 | 0 | 0 | 1 | copy fasta | chr13 | 113948705 | 113979076 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C13orf46 | 1/1 | a0001c0001 | 389 | 88 | 82 | 158 | 16 | 43 | 639 | copy fasta | chr13 | 113948705 | 113979076 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C13orf46 | 0/0 | a0001c0001t0017 | 5 | 4 | 0 | 0 | 0 | 1 | 3678 | copy fasta | chr13 | 113948705 | 113979076 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 113973808 | - | 1 | -0.0701 | -0.0701 | -0.0603 | 0.0098 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113970171 | - | 2 | -0.9921 | -0.9921 | -0.9882 | 0.0039 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113970222 | - | 2 | 0.9955 | 0.9955 | 0.9910 | 0.0045 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113968595 | - | 3 | -0.6886 | -0.6886 | -0.5453 | 0.1433 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113968760 | - | 3 | 0.8645 | 0.8645 | 0.7090 | 0.1555 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113968467 | - | 4 | -0.9920 | -0.9920 | -0.1663 | 0.8257 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113968514 | - | 4 | 0.9545 | 0.9545 | 0.5324 | 0.4222 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113967341 | - | 5 | -0.4782 | -0.4782 | -0.3179 | 0.1603 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113967388 | - | 5 | 0.4841 | 0.4841 | 0.2513 | 0.2329 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113964927 | - | 6 | -0.9974 | -0.9974 | -0.9971 | 0.0003 | acceptor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113964994 | - | 6 | 0.9957 | 0.9957 | 0.9949 | 0.0007 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| 113956839 | - | 7 | 0.8213 | 0.8213 | 0.8212 | 0.0001 | donor | a0001c0001t0017 | HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1 |
HG03490.hp1 | C13orf46 | chr13 | 113948705 | 113979076 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr13:113970643
|
c.191-421T>G |
Neutrophil percentage of white cells0.01 others(7): Show |
a0001a0005a0006a0007 | a0001c0001a0001c0008a0005c0005a0006c0007a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009a0001c0001t0017a0001c0001t0027others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0026others(70): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 others(126): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | C13orf46 | rs28972181-C | - | MODIFIER | chr13 | A | C | |
|
chr13:113970643
|
c.191-421T>G | Lymphocyte count0.017567754 | a0001a0005a0006a0007 | a0001c0001a0001c0008a0005c0005a0006c0007a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009a0001c0001t0017a0001c0001t0027others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0026others(70): Show | HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 others(126): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | C13orf46 | rs28972181-C | - | MODIFIER | chr13 | A | C |
