| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42692397
|
G | A | 0.0123 | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(1): Show | 5 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.*493C>T | 493 | |||||
|
chr22:42692429
|
C | T | 0.0370 | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0009a0001c0002t0011a0001c0002t0014others(3): Show | a0001c0002t0009g0117a0001c0002t0009g0242a0001c0002t0009g0257others(11): Show | 15 | 406 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | c.*461G>A | 461 |
| 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 | ||||||
|
chr22:42694528
|
A | T | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0004a0001c0001t0022a0001c0002t0011others(2): Show | a0001c0001t0004g0234a0001c0001t0004g0235a0001c0001t0004g0246others(26): Show | 30 | 406 | 0.0739 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | c.-46-531T>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 | ||||||
|
chr22:42696427
|
G | GA | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01884.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(5): Show | a0001c0001t0002g0208a0001c0001t0002g0320a0001c0001t0004g0234others(26): Show | 30 | 406 | 0.0739 | 1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-797dupT | ||||||
|
chr22:42696614
|
A | G | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01070.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(8): Show | a0001c0001t0004g0234a0001c0001t0004g0235a0001c0001t0004g0246others(41): Show | 45 | 406 | 0.1108 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-983T>C | ||||||
|
chr22:42696845
|
A | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(168): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(165): Show | 171 | 406 | 0.4212 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-1214T>G | ||||||
|
chr22:42697137
|
T | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01069.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(8): Show | a0001c0001t0004g0234a0001c0001t0004g0235a0001c0001t0004g0246others(41): Show | 45 | 406 | 0.1108 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-1506A>G | ||||||
|
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
|
CA | C | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0011a0001c0007t0004others(1): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(6): Show | 10 | 406 | 0.0246 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-2616delT | ||||||
|
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 | ||||||
|
chr22:42700868
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0011 | a0001c0001t0004g0381a0001c0002t0011g0006a0001c0002t0011g0277others(2): Show | 6 | 406 | 0.0148 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-5237A>G | ||||||
|
chr22:42701279
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0011a0002c0003t0001 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(6): Show | 10 | 406 | 0.0246 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-5648A>G | ||||||
|
chr22:42701545
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(17): Show | a0001c0001t0002g0132a0001c0001t0004g0246a0001c0001t0004g0299others(117): Show | 123 | 406 | 0.3030 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-5914A>G | ||||||
|
chr22:42701891
|
T | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6260A>G | ||||||
|
chr22:42701925
|
T | G | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6294A>C | ||||||
|
chr22:42701994
|
C | T | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0004g0246a0001c0001t0004g0288a0001c0001t0004g0299others(16): Show | 20 | 406 | 0.0493 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6363G>A | ||||||
|
chr22:42702099
|
GTC | G | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | -2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6470_-187-6469delGA | ||||||
|
chr22:42702204
|
T | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(15): Show | 19 | 406 | 0.0468 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6573A>G | ||||||
|
chr22:42702260
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6629C>T | ||||||
|
chr22:42702281
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6650C>T | ||||||
|
chr22:42702299
|
C | CA | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | 1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6669_-187-6668insT | ||||||
|
chr22:42702338
|
C | CTT | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0022a0001c0001t0024others(2): Show | a0001c0001t0004g0246a0001c0001t0004g0393a0001c0001t0022g0214others(7): Show | 11 | 406 | 0.0271 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6709_-187-6708dupAA | ||||||
|
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 | ||||||
|
chr22:42702495
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(129): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0132a0001c0001t0004g0246a0001c0001t0004g0289others(126): Show | 132 | 406 | 0.3251 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-6864A>G | ||||||
|
chr22:42702810
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(4): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(12): Show | 16 | 406 | 0.0394 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7179C>T | ||||||
|
chr22:42703057
|
C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(1): Show | 5 | 406 | 0.0123 | 8 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7427_-187-7426insCACACAGA | ||||||
|
chr22:42703106
|
C | CTG | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(6): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0007g0063others(13): Show | 17 | 406 | 0.0419 | 2 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7477_-187-7476dupCA | ||||||
|
chr22:42703177
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0393others(10): Show | 14 | 406 | 0.0345 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7546C>T | ||||||
|
chr22:42703183
|
AG | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | -1 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7553delC | ||||||
|
chr22:42703259
|
G | GTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0024others(1): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0393others(6): Show | 10 | 406 | 0.0246 | 6 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7634_-187-7629dupAAAAAA | ||||||
|
chr22:42703349
|
G | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0393others(10): Show | 14 | 406 | 0.0345 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7718C>T | ||||||
|
chr22:42703619
|
G | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0393others(10): Show | 14 | 406 | 0.0345 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-7988C>G | ||||||
|
chr22:42704369
|
G | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02451.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0018a0001c0002t0011others(4): Show | a0001c0001t0004g0299a0001c0001t0004g0336a0001c0001t0018g0245others(12): Show | 16 | 406 | 0.0394 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-8738C>G | ||||||
|
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 | ||||||
|
chr22:42705391
|
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 | ||||||
|
chr22:42705423
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(270): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(29): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(265): Show | 273 | 406 | 0.6724 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-187-9792C>T | ||||||
|
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 | ||||||
|
chr22:42708545
|
A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0002g0113a0001c0001t0002g0155a0001c0001t0002g0187others(86): Show | 91 | 406 | 0.2241 | 12 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+12240_-188+12251dupCTTCCTTCCTTC | ||||||
|
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 | ||||||
|
chr22:42709904
|
T | C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0023 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(2): Show | 6 | 406 | 0.0148 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+10893A>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 | ||||||
|
chr22:42713737
|
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 | ||||||
|
chr22:42715841
|
G | T | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01496.hp2 others(39): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0025others(8): Show | a0001c0001t0004g0264a0001c0001t0004g0268a0001c0001t0004g0288others(38): Show | 42 | 406 | 0.1035 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+4956C>A | ||||||
|
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 | ||||||
|
chr22:42718285
|
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 | ||||||
|
chr22:42718330
|
C | T | intron_variant | MODIFIER | HG01123.hp1 HG01256.hp1 HG01258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005a0001c0002t0011others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0302a0001c0001t0002g0304others(8): Show | 13 | 406 | 0.0320 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2467G>A | ||||||
|
chr22:42718444
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0023 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(2): Show | 6 | 406 | 0.0148 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2353C>T | ||||||
|
chr22:42718680
|
C | T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0023 | a0001c0002t0011g0006a0001c0002t0011g0277a0001c0002t0011g0279others(2): Show | 6 | 406 | 0.0148 | 0 | A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | c.-188+2117G>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 | 1/0 | a0001 | 353 | 274 | 36 | 57 | 150 | 7 | 23 | 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 | 1/0 | c0002 | 1062 | 113 | 11 | 32 | 51 | 6 | 12 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | t0011 | 1031 | 5 | 5 | 0 | 0 | 0 | 0 | copy fasta | chr22 | 42687121 | 42725870 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A4GALT | 0/0 | g0006 | 2 | 2 | 0 | 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 | 1/0 | a0001c0002 | 113 | 11 | 32 | 51 | 6 | 12 | 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 | a0001c0002t0011 | 5 | 5 | 0 | 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 | a0001c0002t0011g0006 | 2 | 2 | 0 | 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 | -0.8582 | -0.8581 | -0.8581 | 0.0001 | acceptor | a0001c0002t0011g0006 | HG03516.hp2 | HG01884.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695491 | - | 2 | -0.7633 | -0.7633 | -0.7633 | 0.0000 | acceptor | a0001c0002t0011g0006 | HG01884.hp2 HG03516.hp2 |
HG01884.hp2 HG03516.hp2 |
A4GALT | chr22 | 42687121 | 42725870 |
| 42695631 | - | 2 | 0.8970 | 0.8970 | 0.8970 | 0.0000 | donor | a0001c0002t0011g0006 | HG01884.hp2 HG03516.hp2 |
HG01884.hp2 HG03516.hp2 |
A4GALT | chr22 | 42687121 | 42725870 |
| 42693997 | - | 3 | 0.7137 | 0.7137 | 0.7137 | 0.0000 | donor | a0001c0002t0011g0006 | HG01884.hp2 HG03516.hp2 |
HG01884.hp2 HG03516.hp2 |
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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr22:42716955
|
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 |
|
chr22:42709252
|
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 |
|
chr22:42687149
|
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 | |
|
chr22:42713737
|
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 | |
|
chr22:42713737
|
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 | |
|
chr22:42713737
|
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 |
398,886 European ancestry individuals/ | CYB5R3, A4GALT | rs5758889-A | - | MODIFIER | chr22 | A | G | |
|
chr22:42706084
|
c.-187-10453C>T |
Platelet count (UKB data field 30080)0.0 others(8): Show |
a0001a0002a0004a0005 | a0001c0001a0001c0002a0001c0007a0001c0010a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018a0001c0001t0024a0001c0001t0025others(13): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247a0001c0001t0002g0253a0001c0001t0002g0254others(71): Show | HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 others(73): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | A4GALT, CYB5R3 | rs6002915-A | - | MODIFIER | chr22 | G | A |