| geneid | 53947 |
|---|---|
| ensemblid | ENSG00000128274.17 |
| hgncid | 18149 |
| symbol | A4GALT |
| name | alpha 1,4-galactosyltransferase (P blood group) |
| refseq_nuc | NM_017436.7 |
| refseq_prot | NP_059132.1 |
| ensembl_nuc | ENST00000642412.2 |
| ensembl_prot | ENSP00000494127.1 |
| mane_status | MANE Select |
| chr | chr22 |
| start | 42692121 |
| end | 42720870 |
| strand | - |
| ver | v1.2 |
| region | chr22:42692121-42720870 |
| region5000 | chr22:42687121-42725870 |
| regionname0 | A4GALT_chr22_42692121_42720870 |
| regionname5000 | A4GALT_chr22_42687121_42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42693585
|
A | G | 0.0123 | missense_variant | MODERATE | HG00639.hp1 HG02622.hp1 HG02647.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005a0005c0006t0001g0261a0005c0006t0001g0262others(1): Show | 5 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.367T>C | p.Ser123Pro | 628/2092 | 367/1062 | 123/353 | ||
|
chr22:42693843
|
T | C | 0.2956 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(112): Show | 120 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.109A>G | p.Met37Val | 370/2092 | 109/1062 | 37/353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42692965
|
C | T | 0.2956 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(117): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(112): Show | 120 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.987G>A | p.Thr329Thr | 1248/2092 | 987/1062 | 329/353 | ||
|
chr22:42693049
|
G | C | 0.6970 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(280): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(273): Show | 283 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.903C>G | p.Pro301Pro | 1164/2092 | 903/1062 | 301/353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42692255
|
C | T | 0.2857 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(113): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0008a0002c0003t0017others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(108): Show | 116 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.*635G>A | 635 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42694243
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(287): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(22): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(279): Show | 290 | 406 | 0.7143 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-46-246T>G | ||||||
|
chr22:42695173
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(118): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0002c0008others(2): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(5): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(113): Show | 121 | 406 | 0.2980 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+318G>A | ||||||
|
chr22:42695190
|
C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(296): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(288): Show | 299 | 406 | 0.7365 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+300_-47+301insCT | ||||||
|
chr22:42695335
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(295): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(287): Show | 298 | 406 | 0.7340 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-47+156T>C | ||||||
|
chr22:42696121
|
C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(86): Show |
a0002a0005 | a0002c0003a0002c0008a0005c0006 | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(81): Show | 89 | 406 | 0.2192 | 9 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-499_-187-491dupTTTTTTTTT | ||||||
|
chr22:42696780
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(123): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0003a0002c0008others(3): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(6): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(118): Show | 126 | 406 | 0.3103 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-1149G>A | ||||||
|
chr22:42698021
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(296): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(288): Show | 299 | 406 | 0.7365 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2390A>G | ||||||
|
chr22:42698246
|
CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(239): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(232): Show | 242 | 406 | 0.5961 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2617_-187-2616delTT | ||||||
|
chr22:42698334
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0020a0001c0002t0003a0001c0002t0004others(15): Show | a0001c0001t0020g0026a0001c0002t0003g0001a0001c0002t0003g0012others(216): Show | 226 | 406 | 0.5567 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2703C>G | ||||||
|
chr22:42698459
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0002c0008others(2): Show | a0001c0002t0006a0002c0003t0001a0002c0003t0004others(4): Show | a0001c0002t0006g0147a0002c0003t0001g0002a0002c0003t0001g0008others(106): Show | 114 | 406 | 0.2808 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2828C>T | ||||||
|
chr22:42698919
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0020a0001c0002t0003a0001c0002t0004others(16): Show | a0001c0001t0020g0026a0001c0002t0003g0001a0001c0002t0003g0012others(220): Show | 230 | 406 | 0.5665 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3288C>T | ||||||
|
chr22:42699104
|
TTA | T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02622.hp1 others(7): Show |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0001a0005c0006t0001 | a0002c0003t0001g0232a0002c0003t0001g0241a0002c0003t0001g0243others(6): Show | 10 | 406 | 0.0246 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3475_-187-3474delTA | ||||||
|
chr22:42699368
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(368): Show | 380 | 406 | 0.9360 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3737A>T | ||||||
|
chr22:42699451
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(369): Show | 381 | 406 | 0.9384 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-3820G>A | ||||||
|
chr22:42699731
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(392): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(382): Show | 395 | 406 | 0.9729 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4100G>C | ||||||
|
chr22:42699993
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(112): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0025a0001c0002t0006a0002c0003t0001others(5): Show | a0001c0001t0025g0392a0001c0002t0006g0147a0002c0003t0001g0002others(107): Show | 115 | 406 | 0.2833 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-4362G>A | ||||||
|
chr22:42701508
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(165): Show | 171 | 406 | 0.4212 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-5877C>T | ||||||
|
chr22:42702117
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(44): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(6): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(43): Show | 47 | 406 | 0.1158 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6486G>A | ||||||
|
chr22:42702359
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(64): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(11): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(62): Show | 67 | 406 | 0.1650 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6728G>A | ||||||
|
chr22:42702644
|
ACTCTTTA others(361): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(45): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0025others(7): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(44): Show | 48 | 406 | 0.1182 | -368 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7381_-187-7014del | ||||||
|
chr22:42703057
|
CTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0025a0001c0002t0009others(5): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(26): Show | 30 | 406 | 0.0739 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7428_-187-7427delCA | ||||||
|
chr22:42703106
|
C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01934.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0002t0021a0002c0003t0008others(3): Show | a0001c0001t0004g0234a0001c0001t0004g0336a0001c0002t0021g0282others(6): Show | 10 | 406 | 0.0246 | 18 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7493_-187-7476dupCACACACACACACACACA | ||||||
|
chr22:42703259
|
GT | G | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG01496.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0025a0001c0002t0023others(5): Show | a0001c0001t0004g0234a0001c0001t0004g0264a0001c0001t0004g0268others(38): Show | 42 | 406 | 0.1035 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7629delA | ||||||
|
chr22:42704573
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(281): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(273): Show | 284 | 406 | 0.6995 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-8942C>T | ||||||
|
chr22:42704876
|
GGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(227): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(22): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(222): Show | 230 | 406 | 0.5665 | -3 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9248_-187-9246delGCC | ||||||
|
chr22:42704881
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(230): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(23): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(225): Show | 233 | 406 | 0.5739 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9250C>G | ||||||
|
chr22:42705030
|
G | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02109.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0018a0001c0001t0025a0001c0009t0013others(2): Show | a0001c0001t0018g0245a0001c0001t0025g0392a0001c0009t0013g0364others(11): Show | 15 | 406 | 0.0370 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9399C>A | ||||||
|
chr22:42705391
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(319): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(313): Show | 322 | 406 | 0.7931 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9760C>T | ||||||
|
chr22:42705598
|
CA | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01496.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0024others(8): Show | a0001c0001t0004g0246a0001c0001t0004g0264a0001c0001t0004g0268others(33): Show | 37 | 406 | 0.0911 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9968delT | ||||||
|
chr22:42706084
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(15): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(73): Show | 78 | 406 | 0.1921 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-10453C>T | ||||||
|
chr22:42706353
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(273): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(267): Show | 276 | 406 | 0.6798 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-10722G>A | ||||||
|
chr22:42706354
|
C | CAA | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01496.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(11): Show | a0001c0001t0002g0103a0001c0001t0002g0126a0001c0001t0002g0127others(37): Show | 42 | 406 | 0.1035 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-10725_-187-10724dupTT | ||||||
|
chr22:42706794
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(25): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(164): Show | 170 | 406 | 0.4187 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-11164delT | ||||||
|
chr22:42706931
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(10): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(35): Show | 39 | 406 | 0.0961 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-11300T>C | ||||||
|
chr22:42708545
|
A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0141a0001c0001t0002g0142others(23): Show | 27 | 406 | 0.0665 | 20 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+12232_-188+12251dupCTTCCTTCCTTCCTTCCTTC | ||||||
|
chr22:42708744
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(299): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(294): Show | 302 | 406 | 0.7438 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+12053G>A | ||||||
|
chr22:42709048
|
AAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0004g0235others(29): Show | 33 | 406 | 0.0813 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11747_-188+11748delAT | ||||||
|
chr22:42709182
|
C | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(33): Show | 37 | 406 | 0.0911 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11615G>C | ||||||
|
chr22:42709252
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(384): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(35): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(376): Show | 387 | 406 | 0.9532 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11545C>T | ||||||
|
chr22:42709344
|
C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(40): Show | 44 | 406 | 0.1084 | 1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11452dupT | ||||||
|
chr22:42709697
|
C | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(33): Show | 37 | 406 | 0.0911 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+11100G>A | ||||||
|
chr22:42710183
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(285): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(280): Show | 288 | 406 | 0.7094 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+10614C>G | ||||||
|
chr22:42710697
|
G | GAAAT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0005others(13): Show | a0001c0001t0002g0110a0001c0001t0002g0236a0001c0001t0002g0237others(72): Show | 77 | 406 | 0.1897 | 4 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+10096_-188+10099dupATTT | ||||||
|
chr22:42711040
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(33): Show | 37 | 406 | 0.0911 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+9757T>C | ||||||
|
chr22:42711683
|
C | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(157): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(154): Show | 160 | 406 | 0.3941 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+9114G>C | ||||||
|
chr22:42711831
|
C | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(157): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(154): Show | 160 | 406 | 0.3941 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+8966G>C | ||||||
|
chr22:42713737
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(323): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(34): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(317): Show | 326 | 406 | 0.8030 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+7060T>C | ||||||
|
chr22:42713810
|
CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(17): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0307others(72): Show | 77 | 406 | 0.1897 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+6986delT | ||||||
|
chr22:42714274
|
C | CAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0253a0001c0001t0002g0254a0001c0001t0004g0250others(39): Show | 43 | 406 | 0.1059 | 4 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+6519_-188+6522dupTTTT | ||||||
|
chr22:42714730
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(282): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(277): Show | 285 | 406 | 0.7020 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+6067A>G | ||||||
|
chr22:42715766
|
C | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(37): Show | 41 | 406 | 0.1010 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+5031G>T | ||||||
|
chr22:42715839
|
TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(238): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(233): Show | 241 | 406 | 0.5936 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+4956_-188+4957delCA | ||||||
|
chr22:42716469
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(282): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(277): Show | 285 | 406 | 0.7020 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+4328G>A | ||||||
|
chr22:42716812
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(288): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(283): Show | 291 | 406 | 0.7168 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+3985G>T | ||||||
|
chr22:42716955
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(309): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(34): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(303): Show | 312 | 406 | 0.7685 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+3842A>G | ||||||
|
chr22:42718126
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(43): Show | 47 | 406 | 0.1158 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2671T>C | ||||||
|
chr22:42718150
|
T | C | intron_variant | MODIFIER | HG00639.hp1 HG02622.hp1 HG02647.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005a0005c0006t0001g0261a0005c0006t0001g0262others(1): Show | 5 | 406 | 0.0123 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2647A>G | ||||||
|
chr22:42718285
|
G | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(61): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(16): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(59): Show | 64 | 406 | 0.1576 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2512C>T | ||||||
|
chr22:42718922
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(20): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(119): Show | 125 | 406 | 0.3079 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+1875A>G | ||||||
|
chr22:42719564
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(176): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(19): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(173): Show | 179 | 406 | 0.4409 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+1233C>A | ||||||
|
chr22:42719570
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(269): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(28): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(264): Show | 272 | 406 | 0.6700 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+1227A>G | ||||||
|
chr22:42719770
|
G | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(32): Show | 36 | 406 | 0.0887 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+1027C>G | ||||||
|
chr22:42720131
|
G | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(31): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(30): Show | 34 | 406 | 0.0837 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+666C>G | ||||||
|
chr22:42720257
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(20): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(184): Show | 191 | 406 | 0.4704 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+540C>T | ||||||
|
chr22:42720271
|
C | CTCGCCCT others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(20): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(184): Show | 191 | 406 | 0.4704 | 33 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+525_-188+526insAGATTTGGACCTGCTCAGAAGCGGGAAGGGCGA | ||||||
|
chr22:42720301
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(20): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(184): Show | 191 | 406 | 0.4704 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+496C>A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | a0005 | 353 | 5 | 4 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | c0006 | 1062 | 5 | 4 | 1 | 0 | 0 | 0 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/1 | t0001 | 1031 | 108 | 45 | 19 | 22 | 9 | 12 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | g0261 | 1 | 0 | 1 | 0 | 0 | 0 | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | a0005c0006 | 5 | 4 | 1 | 0 | 0 | 0 | 1062 | copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | a0005c0006t0001 | 5 | 4 | 1 | 0 | 0 | 0 | 2092 | copy fasta | chr22 | 42687121 | 42725870 |
| 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | a0005c0006t0001g0261 | 1 | 0 | 1 | 0 | 0 | 0 | chr22 | 42687121 | 42725870 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42720797 | - | 1 | -0.8280 | -0.8280 | -0.8280 | 0.0000 | acceptor | a0005c0006t0001g0261 | HG00639.hp1 | HG00639.hp1 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695491 | - | 2 | -0.7627 | -0.7627 | -0.7627 | 0.0000 | acceptor | a0005c0006t0001g0261 | HG00639.hp1 | HG00639.hp1 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695631 | - | 2 | 0.8858 | 0.8858 | 0.8858 | 0.0000 | donor | a0005c0006t0001g0261 | HG00639.hp1 | HG00639.hp1 | A4GALT | chr22 | 42687121 | 42725870 |
| 42693997 | - | 3 | 0.7313 | 0.7313 | 0.7313 | 0.0000 | donor | a0005c0006t0001g0261 | HG00639.hp1 | HG00639.hp1 | A4GALT | chr22 | 42687121 | 42725870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 42693049:splice 42693049:variant goto | c.903C>Gp.Pro301Pro | 1221433 | Benign | A4GALT:53947 | SO:0001819 synonymous_variant |
MedGen:C3661900|. | - | 5 | 9 | 22 | 276 | a0001a0002a0004a0005a0006 | a0001c0001a0001c0007a0001c0009a0001c0011a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00408.hp1 others(278): Show |
LOW | chr22 | G | C | TogoVar |
| 42692965:splice 42692965:variant goto | c.987G>Ap.Thr329Thr | 1600484 | Benign | A4GALT:53947 | SO:0001819 synonymous_variant |
.|MedGen:C3661900 | - | 3 | 4 | 7 | 115 | a0002a0005a0006 | a0002c0003a0002c0008a0005c0006a0006c0013 | a0002c0003t0001a0002c0003t0004a0002c0003t0008a0002c0003t0017a0002c0008t0001others(2): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010a0002c0003t0001g0085others(110): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(115): Show |
LOW | chr22 | C | T | TogoVar |
| 42693843:splice 42693843:variant goto | c.109A>Gp.Met37Val | 1529533 | Benign | A4GALT:53947 | SO:0001583 missense_variant |
MedGen:C3661900|. | - | 3 | 4 | 7 | 115 | a0002a0005a0006 | a0002c0003a0002c0008a0005c0006a0006c0013 | a0002c0003t0001a0002c0003t0004a0002c0003t0008a0002c0003t0017a0002c0008t0001others(2): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009a0002c0003t0001g0010a0002c0003t0001g0085others(110): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(115): Show |
MODERATE | chr22 | T | C | TogoVar |
| 42693585:splice 42693585:variant goto | c.367T>Cp.Ser123Pro | 718696 | Benign | A4GALT:53947 | SO:0001583 missense_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 4 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0005a0005c0006t0001g0261a0005c0006t0001g0262a0005c0006t0001g0395 | HG00639.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 NA20129.hp2 |
MODERATE | chr22 | A | G | TogoVar |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42716812
|
c.-188+3985G>T |
Estimated glomerular filtration rate0.00 others(2): Show |
a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(27): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(281): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(286): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals/216,518 Euro others(25): Show |
A4GALT | CYB5R3, A4GALT | rs1883991-A | - | MODIFIER | chr22 | C | A |
|
chr22:42716955
|
c.-188+3842A>G |
Estimated glomerular filtration rate0.00 others(2): Show |
a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(301): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(307): Show |
A catalog of genetic loci associated with kidney f others(47): Show |
567,460 European ancestry individuals, 165,726 Eas others(211): Show |
A4GALT | A4GALT, CYB5R3 | rs738527-T | - | MODIFIER | chr22 | T | C |
|
chr22:42719570
|
c.-188+1227A>G | Hemoglobin levels0.026 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(262): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(267): Show |
Predicted loss and gain of function mutations in A others(39): Show |
684,122 European ancestry individuals/ | A4GALT | CYB5R3, A4GALT | rs5758896-T | - | MODIFIER | chr22 | T | C |
|
chr22:42719570
|
c.-188+1227A>G | Venous thromboembolism0.0513 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(262): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(267): Show |
Genomic and Transcriptomic Association Studies Ide others(62): Show |
29,435 European ancestry cases, 157,769 European a others(17): Show |
NR | CYB5R3, A4GALT | rs5758896-? | - | MODIFIER | chr22 | T | C |
|
chr22:42719570
|
c.-188+1227A>G | Hematocrit0.02718178 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(262): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(267): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
173,039 European ancestry individuals/ | A4GALT | CYB5R3, A4GALT | rs5758896-C | - | MODIFIER | chr22 | T | C |
|
chr22:42719570
|
c.-188+1227A>G | Hemoglobin concentration0.03104328 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(262): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(267): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
172,925 European ancestry individuals/ | A4GALT | CYB5R3, A4GALT | rs5758896-C | - | MODIFIER | chr22 | T | C |
|
chr22:42721589
|
c.-980C>T | Calcium levels0.0165 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018a0001c0001t0019a0001c0001t0022others(18): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(182): Show | HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(186): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
313,387 European ancestry individuals, 5,576 Afric others(64): Show |
NR | A4GALT - Y_RNA | rs5751350-A | - | MODIFIER | chr22 | G | A |
|
chr22:42709252
|
c.-188+11545C>T | Cystatin C levels0.0317 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(33): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(374): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(382): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,399 European ancestry individuals, 6,015 Afric others(64): Show |
NR | A4GALT, CYB5R3 | rs5758885-A | - | MODIFIER | chr22 | G | A |
|
chr22:42720271
|
c.-188+525_-188+526insAGATTTGGACCTGCTCAGAAGCGGGAAGGGCGA | Calcium levels0.001423 | a0001a0002a0003a0004a0005 | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018a0001c0001t0019a0001c0001t0022others(18): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(182): Show | HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 others(186): Show |
Genetically-Determined Serum Calcium Levels and Ma others(87): Show |
305,349 European ancestry individuals/ | NR | CYB5R3, A4GALT | rs28908470-T | - | MODIFIER | chr22 | C | CTCGCCCT others(26): Show |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/22:0) levels0.2 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/1,565 European others(21): Show |
CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42716955
|
c.-188+3842A>G | Estimated glomerular filtration rate (creatinine)others(15): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(301): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(307): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
A4GALT, CYB5R3 | rs738527-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/24:1) levels0.1 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Dihexosylceramide (d18:1/18:0) levels0.1 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42687149
|
c.*5741A>G |
Trihexosylcermide (d18:1/22:0) levels0.3 others(2): Show |
a0001a0002a0004a0005a0006 | a0001c0001a0001c0002a0001c0009a0001c0010a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022a0001c0002t0003a0001c0002t0005others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0150a0001c0001t0002g0152a0001c0001t0002g0229others(159): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
Comprehensive genetic analysis of the human lipido others(91): Show |
4,492 European ancestry individuals/ | CYB5R3 | rs130390-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42720979
|
c.-370A>G | Estimated glomerular filtration rate (creatinine)others(16): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(296): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(301): Show |
Discovery and prioritization of variants and genes others(49): Show |
1,004,040 European ancestry individuals, 165,726 E others(189): Show |
A4GALT | rs28910285-C | - | MODIFIER | chr22 | T | C | |
|
chr22:42716812
|
c.-188+3985G>T | Estimated glomerular filtration rate (creatinine)others(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(27): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(281): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(286): Show |
Discovery and prioritization of variants and genes others(49): Show |
1,004,040 European ancestry individuals/417,288 Eu others(27): Show |
CYB5R3, A4GALT | rs1883991-A | - | MODIFIER | chr22 | C | A | |
|
chr22:42716469
|
c.-188+4328G>A | Height0.0069 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(27): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(275): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(280): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
CYB5R3, A4GALT | rs738526-C | - | MODIFIER | chr22 | C | T | |
|
chr22:42719570
|
c.-188+1227A>G | Red blood cell count | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(262): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(267): Show |
Analysis across Taiwan Biobank, Biobank Japan, and others(73): Show |
92,615 Taiwanese ancestry individuals/ | CYB5R3, A4GALT | rs5758896-? | - | MODIFIER | chr22 | T | C | |
|
chr22:42711683
|
c.-188+9114G>C | Mean platelet volume0.03150749 | a0001a0002a0004a0005 | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018a0001c0001t0019a0001c0001t0024others(14): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101a0001c0001t0002g0102a0001c0001t0002g0103others(152): Show | HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 others(155): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | A4GALT | A4GALT, CYB5R3 | rs5758888-G | - | MODIFIER | chr22 | C | G |
|
chr22:42713737
|
c.-188+7060T>C | creatinine (minimum, inv-norm transformed)others(9): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(315): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(321): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
117,108 African American or Afro-Caribbean individ others(130): Show |
CYB5R3, A4GALT | rs5758889-A | - | MODIFIER | chr22 | A | G | |
|
chr22:42713737
|
c.-188+7060T>C | estimated glomerular filtration rate (eGFR, mean, inv-norm transformed)others(38): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(315): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(321): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,856 African American or Afro-Caribbean individ others(130): Show |
CYB5R3, A4GALT | rs5758889-A | - | MODIFIER | chr22 | A | G | |
|
chr22:42720979
|
c.-370A>G | creatinine (maximum, inv-norm transformed)others(9): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(296): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(301): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
116,285 African American or Afro-Caribbean individ others(130): Show |
A4GALT | rs28910285-T | - | MODIFIER | chr22 | T | C | |
|
chr22:42720979
|
c.-370A>G |
creatinine (mean, inv-norm transformed)0 others(6): Show |
a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(296): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(301): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
116,707 African American or Afro-Caribbean individ others(130): Show |
A4GALT | rs28910285-T | - | MODIFIER | chr22 | T | C | |
|
chr22:42713737
|
c.-188+7060T>C | estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed)others(41): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(315): Show | HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 others(321): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
110,850 African American or Afro-Caribbean individ others(130): Show |
CYB5R3, A4GALT | rs5758889-A | - | MODIFIER | chr22 | A | G | |
|
chr22:42720979
|
c.-370A>G | estimated glomerular filtration rate (eGFR, minimum, inv-norm transformed)others(41): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007a0001c0009a0001c0010others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007a0001c0001t0016a0001c0001t0018others(30): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(296): |