| geneid | 2651 |
|---|---|
| ensemblid | ENSG00000111846.20 |
| hgncid | 4204 |
| symbol | GCNT2 |
| name | glucosaminyl (N-acetyl) transferase 2 (I blood group) |
| refseq_nuc | NM_145649.5 |
| refseq_prot | NP_663624.1 |
| ensembl_nuc | ENST00000495262.7 |
| ensembl_prot | ENSP00000419411.2 |
| mane_status | MANE Select |
| chr | chr6 |
| start | 10521351 |
| end | 10629368 |
| strand | + |
| ver | v1.2 |
| region | chr6:10521351-10629368 |
| region5000 | chr6:10516351-10634368 |
| regionname0 | GCNT2_chr6_10521351_10629368 |
| regionname5000 | GCNT2_chr6_10516351_10634368 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2 | 1/1 | a0001 | 402 | 323 | 86 | 59 | 132 | 8 | 36 | subcellular location copy fasta | chr6 | 10516351 | 10634368 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10521417 | + | 1 | -0.4291 | -0.3611 | 0.0000 | 0.4291 | acceptor | a0001 | HG02080.hp1 | HG02976.hp2 NA19043.hp1 NA20129.hp2 |
GCNT2 | chr6 | 10516351 | 10634368 |
| 10557342 | + | 1 | -0.8848 | -0.7542 | -0.7276 | 0.1573 | acceptor | a0001 | HG02895.hp1 | HG02970.hp1 HG03579.hp1 |
GCNT2 | chr6 | 10516351 | 10634368 |
| 10527474 | + | 2 | 0.1053 | 0.0739 | 0.0420 | 0.0633 | donor | a0001 | HG03579.hp1 | HG02135.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10527660 | + | 2 | -0.1864 | -0.1604 | -0.1182 | 0.0682 | acceptor | a0001 | HG03579.hp1 | HG01192.hp1 HG01433.hp2 HG02258.hp1 |
GCNT2 | chr6 | 10516351 | 10634368 |
| 10621351 | + | 2 | 0.9871 | 0.9838 | 0.9753 | 0.0118 | donor | a0001 | HG01243.hp1 HG02622.hp1 HG03139.hp1 HG03486.hp2 |
NA18747.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621443 | + | 2 | -0.9947 | -0.9939 | -0.9900 | 0.0047 | acceptor | a0001 | HG01243.hp1 HG02622.hp1 HG03139.hp1 HG03486.hp2 |
NA18747.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10528631 | + | 3 | 0.3490 | 0.2440 | 0.2280 | 0.1210 | donor | a0001 | HG01496.hp1 | HG01884.hp2 HG02622.hp2 HG02965.hp2 |
GCNT2 | chr6 | 10516351 | 10634368 |
| 10529836 | + | 3 | -0.9419 | -0.9357 | -0.9260 | 0.0159 | acceptor | a0001 | HG02896.hp1 | NA19011.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10626417 | + | 3 | 0.9694 | 0.9370 | 0.9285 | 0.0409 | donor | a0001 | HG02717.hp1 | HG02738.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621351 | + | 4 | 0.9871 | 0.9838 | 0.9753 | 0.0118 | donor | a0001 | HG01243.hp1 HG02622.hp1 HG03139.hp1 HG03486.hp2 |
NA18747.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10621443 | + | 4 | -0.9947 | -0.9939 | -0.9900 | 0.0047 | acceptor | a0001 | HG01243.hp1 HG02622.hp1 HG03139.hp1 HG03486.hp2 |
NA18747.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 10626417 | + | 5 | 0.9694 | 0.9370 | 0.9285 | 0.0409 | donor | a0001 | HG02717.hp1 | HG02738.hp2 | GCNT2 | chr6 | 10516351 | 10634368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10586805:splice 10586805:variant goto | c.926-34546C>G | 1174626 | Benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 2 | 4 | 30 | 315 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(310): Show | HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 others(310): Show |
MODIFIER | chr6 | C | G | TogoVar |
| 10621634:splice 10621634:variant goto | c.1018+191T>C | 1243404 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 11 | 49 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(44): Show | HG00735.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01361.hp1 others(44): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10621314:splice 10621314:variant goto | c.926-37C>T | 1281467 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 34 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(29): Show | HG00735.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 others(29): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10621597:splice 10621597:variant goto | c.1018+154C>T | 1290731 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 34 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(29): Show | HG00735.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 others(29): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10621695:splice 10621695:variant goto | c.1018+252T>C | 1270475 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 34 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(29): Show | HG00735.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 others(29): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10621731:splice 10621731:variant goto | c.1018+288A>G | 1286930 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 5 | 25 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0025others(20): Show | HG00735.hp2 HG01175.hp1 HG01361.hp2 HG01891.hp2 HG01978.hp2 others(20): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10557053:splice 10557053:variant goto | c.925+27217T>G | 354706 | Benign/Likely_benign | GCNT2:2651 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
.|MedGen:C0020717 OMIM:110800|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | HG02895.hp1 | MODIFIER | chr6 | T | G | TogoVar |
| 10555749:splice 10555749:variant goto | c.925+25913G>T | 354691 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900|MedGen:C0020717 OMIM:110800 |
+ | 1 | 3 | 10 | 84 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0014others(79): Show | HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00741.hp2 others(79): Show |
MODIFIER | chr6 | G | T | TogoVar |
| 10557493:splice 10557493:variant goto | c.925+27669delT | 1276434 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 3 | 11 | 85 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0015others(80): Show | HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp2 others(80): Show |
MODIFIER | chr6 | CT | C | TogoVar |
| 10528561:splice 10528561:variant goto | c.-281-70T>C | 1286956 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 3 | 19 | 197 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(192): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(192): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10529940:splice 10529940:variant goto | c.925+104C>A | 1191362 | Likely_benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0007a0001c0001t0009g0006 | HG02895.hp1 NA19030.hp1 |
MODIFIER | chr6 | C | A | TogoVar |
| 10585773:splice 10585773:variant goto | c.926-35578A>C | 1242272 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 13 | 51 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0019others(46): Show | HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 others(46): Show |
MODIFIER | chr6 | A | C | TogoVar |
| 10585747:splice 10585747:variant goto | c.926-35604A>G | 1244006 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 21 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039others(16): Show | HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 others(16): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10585618:splice 10585618:variant goto | c.926-35733C>A | 1706920 | Likely_benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0073 | HG02818.hp1 HG02895.hp2 HG03540.hp1 |
MODIFIER | chr6 | C | A | TogoVar |
| 10585879:splice 10585879:variant goto | c.926-35472G>A | 1706921 | Likely_benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 3 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0073 | HG02818.hp1 HG02895.hp2 HG03540.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 10587188:splice 10587188:variant goto | c.926-34163G>A | 1234824 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 2 | 6 | 13 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0012a0001c0001t0027others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0065a0001c0001t0001g0156others(8): Show | HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 others(8): Show |
MODIFIER | chr6 | G | A | TogoVar |
| 10626179:splice 10626179:variant goto | c.1019-238C>T | 1269906 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 18 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008a0001c0001t0012a0001c0001t0020others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0321a0001c0001t0004g0020others(13): Show | HG01891.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 others(13): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10585880:splice 10585880:variant goto | c.926-35471G>A | 1238450 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 18 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0039a0001c0001t0001g0081a0001c0001t0001g0131others(13): Show | HG01243.hp1 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 others(13): Show |
MODIFIER | chr6 | G | A | TogoVar |
| 10556431:splice 10556431:variant goto | c.925+26595T>C | 354699 | Benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C0020717 OMIM:110800|MedGen:C3661900|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 1 | 1 | 3 | 3 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021a0001c0001t0023 | a0001c0001t0001g0017a0001c0001t0021g0064a0001c0001t0023g0313 | HG02572.hp2 HG02970.hp1 HG03579.hp1 |
MODIFIER | chr6 | T | C | TogoVar |
| 10555655:splice 10555655:variant goto | c.925+25819G>A | 1277355 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 8 | 24 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(19): Show | HG00140.hp1 HG00323.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp1 others(19): Show |
MODIFIER | chr6 | G | A | TogoVar |
| 10586696:splice 10586696:variant goto | c.926-34655A>G | 1266532 | Benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 3 | 8 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0022a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0003g0234a0001c0001t0003g0235others(3): Show | HG01361.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 others(3): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10586823:splice 10586823:variant goto | c.926-34528A>G | 1272672 | Benign | GCNT2:2651 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900 | + | 1 | 1 | 3 | 7 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0192a0001c0001t0001g0287a0001c0001t0003g0230others(2): Show | HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 others(2): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10556639:splice 10556639:variant goto | c.925+26803C>T | 258157 | Benign | GCNT2:2651 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492|MedGen:CN169374|MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 5 | 11 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0125a0001c0001t0001g0139a0001c0001t0001g0299others(6): Show | HG00140.hp1 HG00323.hp2 HG01099.hp1 HG01175.hp2 HG01192.hp1 others(6): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10556106:splice 10556106:variant goto | c.925+26270G>C | 354697 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 3 | 7 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0075a0001c0001t0001g0266a0001c0001t0003g0235a0001c0001t0003g0236a0001c0001t0003g0239others(2): Show | HG02258.hp1 HG02486.hp1 HG02559.hp1 HG03098.hp2 HG03139.hp2 others(2): Show |
MODIFIER | chr6 | G | C | TogoVar |
| 10556581:splice 10556581:variant goto | c.925+26756_925+26774dupCGTTTCCTGTGGAAAAACA | 632465 | Uncertain_significance | GCNT2:2651 | SO:0001589 frameshift_variant,SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | NA19080.hp1 | MODIFIER | chr6 | A | ATGGAAAA others(12): Show |
TogoVar |
| 10621458:splice 10621458:variant goto | c.1018+15C>G | 258156 | Conflicting_classifications_of_pathogenicity | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:CN169374|MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | NA18969.hp1 | MODIFIER | chr6 | C | G | TogoVar |
| 10530003:splice 10530003:variant goto | c.925+167A>T | 1215107 | Likely_benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205a0001c0001t0001g0206 | HG00741.hp1 HG02615.hp2 |
MODIFIER | chr6 | A | T | TogoVar |
| 10585619:splice 10585619:variant goto | c.926-35732G>A | 1203737 | Likely_benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0226a0001c0001t0008g0219 | HG02630.hp1 HG02717.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 10556940:splice 10556940:variant goto | c.925+27104A>G | 354705 | Benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MedGen:C0020717 OMIM:110800|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | HG03927.hp2 | MODIFIER | chr6 | A | G | TogoVar |
| 10556753:splice 10556753:variant goto | c.925+26917G>A | 354703 | Benign | GCNT2:2651 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:C0020717 OMIM:110800|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | HG03017.hp2 | MODIFIER | chr6 | G | A | TogoVar |
| 10627781:splice 10627781:variant goto | c.*1174T>C | 354727 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 3 | 41 | a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024a0001c0001t0026 | a0001c0001t0002g0042a0001c0001t0002g0047a0001c0001t0002g0080a0001c0001t0002g0083a0001c0001t0002g0086others(36): Show | HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00735.hp1 HG01928.hp2 others(36): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10586494:splice 10586494:variant goto | c.926-34857G>A | 701963 | Benign/Likely_benign | GCNT2:2651 | SO:0001583 missense_variant,SO:0001627 intron_variant |
MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492|MedGen:C3661900 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | HG02257.hp1 | MODIFIER | chr6 | G | A | TogoVar |
| 10528781:splice 10528781:variant goto | c.-131A>G | 1233305 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 7 | 21 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0010a0001c0001t0011a0001c0001t0023others(2): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(16): Show | HG00642.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 others(16): Show |
MODIFIER | chr6 | A | G | TogoVar |
| 10528854:splice 10528854:variant goto | c.-58T>C | 1285722 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 6 | 18 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(13): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(13): Show |
MODIFIER | chr6 | T | C | TogoVar |
| 10627628:splice 10627628:variant goto | c.*1022_*1025dupTTCA | 354724 | Likely_benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:CN116433 | + | 1 | 1 | 8 | 18 | a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0004g0020a0001c0001t0004g0035a0001c0001t0004g0069a0001c0001t0004g0253a0001c0001t0004g0298others(13): Show | HG00735.hp2 HG01109.hp1 HG01891.hp1 HG02258.hp1 HG02486.hp1 others(13): Show |
MODIFIER | chr6 | C | CTTCA | TogoVar |
| 10627289:splice 10627289:variant goto | c.*682G>C | 354721 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 2 | 8 | a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0020a0001c0001t0004g0035a0001c0001t0004g0069a0001c0001t0004g0253a0001c0001t0004g0298others(3): Show | HG01891.hp1 HG02647.hp1 HG02738.hp1 HG02896.hp1 HG03130.hp1 others(3): Show |
MODIFIER | chr6 | G | C | TogoVar |
| 10626712:splice 10626712:variant goto | c.*105C>T | 354713 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 2 | 8 | a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0020a0001c0001t0004g0035a0001c0001t0004g0069a0001c0001t0004g0253a0001c0001t0004g0298others(3): Show | HG01891.hp1 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 others(3): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10628340:splice 10628340:variant goto | c.*1733T>G | 354732 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 3 | 9 | a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021a0001c0001t0027 | a0001c0001t0004g0020a0001c0001t0004g0035a0001c0001t0004g0069a0001c0001t0004g0253a0001c0001t0004g0298others(4): Show | HG01891.hp1 HG02647.hp1 HG02738.hp1 HG02896.hp1 HG03130.hp1 others(4): Show |
MODIFIER | chr6 | T | G | TogoVar |
| 10557110:splice 10557110:variant goto | c.925+27274T>C | 354707 | Benign | GCNT2:2651 | SO:0001627 intron_variant,SO:0001819 synonymous_variant |
MedGen:C3661900|MedGen:C0020717 OMIM:110800|MONDO:MONDO:0007289 MedGen:C3805373 OMIM:116700 Orphanet:91492 |
+ | 1 | 1 | 2 | 3 | a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0314a0001c0001t0004g0316a0001c0001t0019g0127 | HG02717.hp2 HG03130.hp1 HG03195.hp2 |
MODIFIER | chr6 | T | C | TogoVar |
| 10627278:splice 10627278:variant goto | c.*671C>T | 354720 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 6 | 10 | a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010a0001c0001t0021a0001c0001t0023others(1): Show | a0001c0001t0005g0026a0001c0001t0005g0040a0001c0001t0005g0213a0001c0001t0008g0219a0001c0001t0008g0322others(5): Show | HG00735.hp2 HG01109.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 others(5): Show |
MODIFIER | chr6 | C | T | TogoVar |
| 10629127:splice 10629127:variant goto | c.*2520C>A | 354740 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 6 | 10 | a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010a0001c0001t0021a0001c0001t0023others(1): Show | a0001c0001t0005g0026a0001c0001t0005g0040a0001c0001t0005g0213a0001c0001t0008g0219a0001c0001t0008g0322others(5): Show | HG00735.hp2 HG01109.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp2 others(5): Show |
MODIFIER | chr6 | C | A | TogoVar |
| 10627546:splice 10627546:variant goto | c.*939G>T | 354722 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 2 | 5 | a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0026a0001c0001t0005g0040a0001c0001t0005g0213a0001c0001t0010g0240a0001c0001t0010g0242 | HG00735.hp2 HG01109.hp1 HG02258.hp1 HG02486.hp1 HG03486.hp2 |
MODIFIER | chr6 | G | T | TogoVar |
| 10629372:splice 10629372:variant goto | c.*2765C>T | 369510 | Likely_benign | GCNT2:2651 | . | MedGen:CN116433 | + | 1 | 1 | 2 | 5 | a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0026a0001c0001t0005g0040a0001c0001t0005g0213a0001c0001t0010g0240a0001c0001t0010g0242 | HG00735.hp2 HG01109.hp1 HG02258.hp1 HG02486.hp1 HG03486.hp2 |
MODIFIER | chr6 | C | T | TogoVar |
| 10621158:splice 10621158:variant goto | c.926-193A>G | 1697056 | Likely_benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 2 | 3 | a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0213a0001c0001t0010g0240a0001c0001t0010g0242 | HG01109.hp1 HG02258.hp1 HG02486.hp1 |
MODIFIER | chr6 | A | G | TogoVar |
| 10528886:splice 10528886:variant goto | c.-26A>C | 1285739 | Benign | GCNT2:2651 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 2 | 4 | a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022 | a0001c0001t0006g0286a0001c0001t0006g0288a0001c0001t0006g0295a0001c0001t0022g0271 | HG00639.hp2 HG00741.hp2 HG01081.hp2 HG01099.hp1 |
MODIFIER | chr6 | A | C | TogoVar |
| 10626832:splice 10626832:variant goto | c.*225G>A | 354716 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0219a0001c0001t0008g0322 | HG02717.hp1 HG03195.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 10626331:splice 10626331:variant goto | c.1019-86G>A | 1282576 | Benign | GCNT2:2651 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 1 | 1 | 2 | 3 | a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0023 | a0001c0001t0008g0219a0001c0001t0008g0322a0001c0001t0023g0313 | HG02572.hp2 HG02717.hp1 HG03195.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 10627005:splice 10627005:variant goto | c.*398T>A | 906152 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006a0001c0001t0009g0033 | HG02055.hp1 NA19030.hp1 |
MODIFIER | chr6 | T | A | TogoVar |
| 10627375:splice 10627375:variant goto | c.*768G>A | 907157 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0076 | NA19240.hp2 | MODIFIER | chr6 | G | A | TogoVar |
| 10627924:splice 10627924:variant goto | c.*1317G>A | 354729 | Uncertain_significance | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0022 | a0001c0001t0016g0098a0001c0001t0022g0271 | HG01081.hp2 HG01978.hp1 |
MODIFIER | chr6 | G | A | TogoVar |
| 10627681:splice 10627681:variant goto | c.*1074A>G | 354725 | Uncertain_significance | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0100 | NA19005.hp2 | MODIFIER | chr6 | A | G | TogoVar |
| 10626688:splice 10626688:variant goto | c.*81G>A | 354710 | Benign/Likely_benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C3661900|MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0313 | HG02572.hp2 | MODIFIER | chr6 | G | A | TogoVar |
| 10629059:splice 10629059:variant goto | c.*2452G>C | 354738 | Benign | GCNT2:2651 | SO:0001624 3_prime_UTR_variant |
MedGen:C0020717 OMIM:110800 |
+ | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0313 | HG02572.hp2 | MODIFIER | chr6 | G | C | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr6:10613224
|
c.926-8127C>T | Perceived intensity of glucose0.3 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(76): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00673.hp2 others(76): Show |
New insight into human sweet taste: a genome-wide others(67): Show |
1,757 European ancestry twins/ | GCNT2 | GCNT2 | rs7764197-T | + | MODIFIER | chr6 | C | T |
|
chr6:10518117
|
c.-3769G>A | White blood cell count | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(194): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(194): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 444,000 European ancestry individual others(2): Show |
GCNT2 | rs504117-? | + | MODIFIER | chr6 | G | A | |
|
chr6:10595990
|
c.926-25361A>G | Hair color | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0192a0001c0001t0001g0287a0001c0001t0003g0230others(3): Show | HG00140.hp1 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp2 others(3): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 452,000 European ancestry individual others(2): Show |
GCNT2 | rs78781079-? | + | MODIFIER | chr6 | A | G | |
|
chr6:10533759
|
c.925+3923C>T | Serum urate levels0.0276 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023others(2): Show | a0001c0001t0001g0025a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232others(14): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(14): Show |
A genome-wide association analysis reveals new pat others(25): Show |
630,117 European ancestry individuals/ | GCNT2 | rs12386520-T | + | MODIFIER | chr6 | C | T | |
|
chr6:10559718
|
c.925+29882G>A |
Protein quantitative trait loci (liver)0 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004a0001c0001t0011a0001c0001t0025others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0018a0001c0001t0001g0216a0001c0001t0003g0233a0001c0001t0003g0238others(4): Show | HG01496.hp1 HG02109.hp1 HG02622.hp1 HG03041.hp2 HG03540.hp2 others(4): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | GCNT2 | rs538918175-A | + | MODIFIER | chr6 | G | A |
|
chr6:10606778
|
c.926-14573C>A | Lean body mass0.3967 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0279 | HG01256.hp2 HG01975.hp2 |
Whole-Genome Sequencing Coupled to Imputation Disc others(48): Show |
3,399 whole genome sequenced individuals, 11,801 E others(65): Show |
GCNT2 | GCNT2 | rs191578361-A | + | MODIFIER | chr6 | C | A |
|
chr6:10526140
|
c.-468-1334T>A |
Monocyte percentage of white cells0.0219 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,494 European ancestry individuals/ | GCNT2 | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10526140
|
c.-468-1334T>A | Monocyte count0.03104518 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
170,721 European ancestry individuals/ | GCNT2 | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10519657
|
c.-2229C>A | Monocyte count | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
Genetic determinants of blood-cell traits influenc others(59): Show |
234,690 European ancestry individuals/100,494 Euro others(25): Show |
GCNT2 | rs707794-C | + | MODIFIER | chr6 | C | A | |
|
chr6:10545495
|
c.925+15659G>A | Body mass index0.01 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0014others(59): Show | HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 others(59): Show |
Genomics and phenomics of body mass index reveals others(26): Show |
1,122,049 European ancestry individuals/ | GCNT2 | rs16870458-G | + | MODIFIER | chr6 | G | A | |
|
chr6:10526140
|
c.-468-1334T>A | Monocyte count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
639,696 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.030445 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
521,594 European ancestry individuals/ | NR | GCNT2 | rs707794-A | + | MODIFIER | chr6 | C | A |
|
chr6:10534578
|
c.925+4742G>C | Lymphocyte count0.012859 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137others(157): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(157): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
524,923 European ancestry individuals/ | NR | GCNT2 | rs6911448-C | + | MODIFIER | chr6 | G | C |
|
chr6:10526140
|
c.-468-1334T>A | Lymphocyte count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
643,370 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10518117
|
c.-3769G>A | White blood cell count0.014228 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(194): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(194): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
562,243 European ancestry individuals/ | NR | GCNT2 | rs504117-A | + | MODIFIER | chr6 | G | A |
|
chr6:10526140
|
c.-468-1334T>A | White blood cell count | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(240): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(240): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
746,667 African American or Afro-Caribbean, Africa others(116): Show |
NR | GCNT2 | rs605783-A | + | MODIFIER | chr6 | T | A |
|
chr6:10523142
|
c.-469+1725A>T | Serum urate levels0.0268 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0011a0001c0001t0023a0001c0001t0024others(1): Show | a0001c0001t0003g0229a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0232a0001c0001t0003g0233others(13): Show | HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01433.hp2 HG02109.hp1 others(13): Show |
Large-scale cross-ancestry genome-wide meta-analys others(18): Show |
219,768 East Asian ancestry individuals, 677,373 E others(50): Show |
GCNT2 | rs539664-A | + | MODIFIER | chr6 | A | T | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, maximum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,039 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10539056
|
c.925+9220T>G | monocyte (absolute count, minimum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(186): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(186): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,142 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs1226013-T | + | MODIFIER | chr6 | T | G | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, mean, inv-norm transformed)others(20): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
73,140 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (fraction, mean, inv-norm transformed)others(14): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
82,924 African American or Afro-Caribbean individu others(129): Show |
GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.030983908 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs707794-C | + | MODIFIER | chr6 | C | A |
|
chr6:10533230
|
c.925+3394T>C |
Monocyte percentage of white cells0.0221 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(196): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(196): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs809479-C | + | MODIFIER | chr6 | T | C |
|
chr6:10554377
|
c.925+24541C>T | Body mass index0.0112 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(150): Show | HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 others(150): Show |
A cross-population atlas of genetic associations f others(24): Show |
359,983 European ancestry individuals, 163,835 Eas others(29): Show |
GCNT2 | rs669331-T | + | MODIFIER | chr6 | C | T | |
|
chr6:10535358
|
c.925+5522A>C | monocyte (absolute count, maximum, inv-norm transformed)others(23): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
259,269 European ancestry individuals/ | GCNT2 | rs509227-A | + | MODIFIER | chr6 | A | C | |
|
chr6:10519657
|
c.-2229C>A | Monocyte count0.0232 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(219): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(219): Show |
A cross-population atlas of genetic associations f others(24): Show |
349,856 European ancestry individuals, 95,119 East others(28): Show |
GCNT2 | rs707794-A | + | MODIFIER | chr6 | C | A | |
|
chr6:10526565
|
c.-468-909C>G | FCER2/FCRL1 protein level ratio0.104174 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0139others(143): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(143): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs942632-? | + | MODIFIER | chr6 | C | G | |
|
chr6:10539056
|
c.925+9220T>G | CD22/FCRL1 protein level ratio0.139862 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(186): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(186): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111916869-? | + | MODIFIER | chr6 | T | G | |
|
chr6:10528201
|
c.-281-430A>G |
FCRL1/TNFRSF13C protein level ratio0.110 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138others(163): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(163): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111904887-? | + | MODIFIER | chr6 | A | G | |
|
chr6:10526565
|
c.-468-909C>G | FCRL1/TREML2 protein level ratio0.105643 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0139others(143): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(143): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs942632-? | + | MODIFIER | chr6 | C | G | |
|
chr6:10528201
|
c.-281-430A>G | CD163/MSR1 protein level ratio0.0958037 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138others(163): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(163): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111904887-? | + | MODIFIER | chr6 | A | G | |
|
chr6:10528201
|
c.-281-430A>G | ALCAM/LRRC25 protein level ratio0.302124 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0138others(163): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(163): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111904887-? | + | MODIFIER | chr6 | A | G | |
|
chr6:10539056
|
c.925+9220T>G |
HAVCR2/TNFRSF1B protein level ratio0.078 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(186): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(186): Show |
Genetic associations with ratios between protein l others(63): Show |
43,509 European ancestry individuals/ | GCNT2 | rs111916869-? | + | MODIFIER | chr6 | T | G | |
|
chr6:10537493
|
c.925+7657A>G | White blood cell count0.015289398 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(181): Show | HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 others(181): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs13195149-G | + | MODIFIER | chr6 | A | G |
|
chr6:10545495
|
c.925+15659G>A | Lymphocyte count0.016796967 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0014others(59): Show | HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 others(59): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | GCNT2 | GCNT2 | rs16870458-A | + | MODIFIER | chr6 | G | A |
|
chr6:10609212
|
c.926-12139C>T |
Sodium (mean, inv-norm transformed)0.027 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005a0001c0001t0011a0001c0001t0021 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0018others(29): Show | HG00735.hp2 HG01175.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 others(29): Show |
Diversity and scale: Genetic architecture of 2068 others(41): Show |
118,487 African American or Afro-Caribbean individ others(130): Show |
GCNT2 | rs55843400-C | + | MODIFIER | chr6 | C | T | |
|
chr6:10535358
|
c.925+5522A>C | Monocyte percentage (UKB data field 30190)others(13): Show | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | GCNT2 | rs509227-C | + | MODIFIER | chr6 | A | C | |
|
chr6:10535358
|
c.925+5522A>C |
Monocyte count (UKB data field 30130)0.0 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(206): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(206): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | GCNT2 | rs509227-C | + | MODIFIER | chr6 | A | C | |
|
chr6:10534578
|
c.925+4742G>C | B3GNT7 protein levels0.03983906 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0025a0001c0001t0001g0133a0001c0001t0001g0135a0001c0001t0001g0137others(157): Show | HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 others(157): Show |
A scalable variational inference approach for incr others(36): Show |
47,745 European ancestry individuals/ | GCNT2 | rs6911448-C | + | MODIFIER | chr6 | G | C |
