| 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 |
| 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 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 |
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 | -0.8600 | -0.8582 | -0.8581 | 0.0019 | acceptor | a0001c0002t0011 | HG02451.hp2 HG06807.hp2 |
HG01884.hp2 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695491 | - | 2 | -0.7633 | -0.7633 | -0.7599 | 0.0034 | acceptor | a0001c0002t0011 | HG01884.hp2 HG02451.hp2 HG03516.hp2 HG06807.hp2 |
HG03139.hp1 | A4GALT | chr22 | 42687121 | 42725870 |
| 42695631 | - | 2 | 0.9068 | 0.8970 | 0.8970 | 0.0099 | donor | a0001c0002t0011 | HG03139.hp1 | HG01884.hp2 HG02451.hp2 HG03516.hp2 HG06807.hp2 |
A4GALT | chr22 | 42687121 | 42725870 |
| 42693997 | - | 3 | 0.7147 | 0.7137 | 0.7137 | 0.0009 | donor | a0001c0002t0011 | HG03139.hp1 | HG01884.hp2 HG02451.hp2 HG03516.hp2 HG06807.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 |