| geneid | 144568 |
|---|---|
| ensemblid | ENSG00000166535.20 |
| hgncid | 23336 |
| symbol | A2ML1 |
| name | alpha-2-macroglobulin like 1 |
| refseq_nuc | NM_144670.6 |
| refseq_prot | NP_653271.3 |
| ensembl_nuc | ENST00000299698.12 |
| ensembl_prot | ENSP00000299698.7 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 8822621 |
| end | 8876787 |
| strand | + |
| ver | v1.2 |
| region | chr12:8822621-8876787 |
| region5000 | chr12:8817621-8881787 |
| regionname0 | A2ML1_chr12_8822621_8876787 |
| regionname5000 | A2ML1_chr12_8817621_8881787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8852296
|
C | A | 0.9511 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0002a0001c0006others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(77): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/36 | c.2550C>A | p.Asp850Glu | 2581/5127 | 2550/4365 | 850/1454 | ||
|
chr12:8855563
|
A | G | 0.0027 | missense_variant | MODERATE | NA19077.hp1 | a0035 | a0035c0067 | a0035c0067t0003 | a0035c0067t0003g0223 | 1 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/36 | c.2819A>G | p.Asp940Gly | 2850/5127 | 2819/4365 | 940/1454 | ||
|
chr12:8863977
|
A | G | 0.9511 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(347): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0006others(62): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(340): Show | 350 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | c.3686A>G | p.His1229Arg | 3717/5127 | 3686/4365 | 1229/1454 | ||
|
chr12:8867893
|
A | G | 0.8641 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0006others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(309): Show | 318 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | c.3769A>G | p.Met1257Val | 3800/5127 | 3769/4365 | 1257/1454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2ML1 | 0/0 | a0035 | 1454 | 1 | 0 | 0 | 1 | 0 | 0 | subcellular location copy fasta | chr12 | 8817621 | 8881787 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8822713 | + | 1 | -0.1375 | -0.1375 | -0.1375 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.4961 | 0.4961 | 0.4961 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.3828 | -0.3828 | -0.3828 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.8013 | 0.8013 | 0.8013 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9692 | -0.9692 | -0.9692 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9803 | 0.9803 | 0.9803 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9916 | -0.9916 | -0.9916 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9397 | 0.9397 | 0.9397 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9606 | -0.9606 | -0.9606 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.3619 | 0.3619 | 0.3619 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.2210 | -0.2210 | -0.2210 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.8024 | 0.8024 | 0.8024 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7831 | -0.7831 | -0.7831 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9805 | 0.9805 | 0.9805 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9896 | -0.9896 | -0.9896 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9965 | -0.9965 | -0.9965 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9981 | 0.9981 | 0.9981 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9995 | -0.9994 | -0.9995 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9942 | 0.9942 | 0.9942 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.9903 | -0.9903 | -0.9903 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9890 | 0.9890 | 0.9890 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9950 | -0.9950 | -0.9950 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9841 | 0.9841 | 0.9841 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9712 | -0.9712 | -0.9712 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9952 | 0.9951 | 0.9952 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9832 | 0.9832 | 0.9832 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9668 | -0.9667 | -0.9668 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9810 | 0.9810 | 0.9810 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9935 | -0.9935 | -0.9935 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9350 | 0.9349 | 0.9350 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9163 | -0.9163 | -0.9163 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8578 | 0.8578 | 0.8578 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9780 | -0.9780 | -0.9780 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9908 | 0.9908 | 0.9908 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9258 | -0.9257 | -0.9258 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9026 | 0.9026 | 0.9026 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8568 | -0.8568 | -0.8568 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9765 | 0.9765 | 0.9765 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9568 | -0.9567 | -0.9568 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9685 | 0.9685 | 0.9685 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9706 | -0.9706 | -0.9706 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9822 | 0.9822 | 0.9822 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9948 | -0.9948 | -0.9948 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9958 | 0.9958 | 0.9958 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9928 | -0.9928 | -0.9928 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9934 | 0.9934 | 0.9934 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9949 | -0.9949 | -0.9949 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6641 | 0.6641 | 0.6641 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.6815 | -0.6815 | -0.6815 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9896 | -0.9896 | -0.9896 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9914 | 0.9914 | 0.9914 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9903 | -0.9903 | -0.9903 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9912 | 0.9912 | 0.9912 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.3306 | 0.3306 | 0.3306 | 0.0000 | donor | a0035 | NA19077.hp1 | NA19077.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8823305
|
c.186C>Tp.Thr62Thr | Metabolite levels0.5604696 | a0001a0002a0003a0004a0005others(6): Show | a0001c0006a0001c0008a0001c0068a0002c0007a0002c0017others(12): Show | a0001c0006t0002a0001c0008t0001a0001c0008t0002a0001c0068t0002a0002c0007t0001others(18): Show | a0001c0006t0002g0009a0001c0006t0002g0010a0001c0006t0002g0226a0001c0006t0002g0229a0001c0006t0002g0231others(51): Show | HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(52): Show |
A genome-wide association study of the human metab others(34): Show |
2,076 European ancestry individuals/ | FAM80B | A2ML1, A2ML1-AS1 | rs17792974-? | + | LOW | chr12 | C | T |
|
chr12:8837320
|
c.729-120A>G | Exploratory eye movement dysfunction in schizophrenia (responsive search score)others(44): Show | a0001a0002a0003a0004a0005others(29): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(68): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(305): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(311): Show |
Association of chromosome 5q21.3 polymorphisms wit others(60): Show |
128 Han Chinese ancestry cases/ | NR | A2ML1 | rs11047510-? | + | MODIFIER | chr12 | A | G |
|
chr12:8881276
|
c.*5220G>T | Gut microbial network clusters (Purple (at 1 year) x Vaginal Birth interactionothers(42): Show | a0001a0002a0003a0004a0005others(36): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(83): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(334): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 others(341): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(238): Show |
A2ML1 | rs4883196-G | + | MODIFIER | chr12 | G | T |