| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8849672
|
G | T | 0.0027 | missense_variant | MODERATE | HG02622.hp2 | a0026 | a0026c0056 | a0026c0056t0003 | a0026c0056t0003g0133 | 1 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 17/36 | c.2032G>T | p.Val678Leu | 2063/5127 | 2032/4365 | 678/1454 | ||
|
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 |
| 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 | a0026 | 1454 | 1 | 1 | 0 | 0 | 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 | -0.1406 | -0.1406 | -0.1406 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.5066 | 0.5066 | 0.5066 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.4527 | -0.4527 | -0.4527 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.7879 | 0.7879 | 0.7879 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9773 | -0.9773 | -0.9773 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9819 | 0.9819 | 0.9819 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9853 | -0.9853 | -0.9853 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9443 | 0.9443 | 0.9443 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9628 | -0.9627 | -0.9628 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.3314 | 0.3314 | 0.3314 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.2549 | -0.2549 | -0.2549 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.8022 | 0.8022 | 0.8022 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7568 | -0.7568 | -0.7568 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9815 | 0.9815 | 0.9815 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9964 | -0.9964 | -0.9964 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9980 | 0.9980 | 0.9980 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.9906 | -0.9906 | -0.9906 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9879 | 0.9879 | 0.9879 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9858 | -0.9858 | -0.9858 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9841 | 0.9841 | 0.9841 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9739 | -0.9739 | -0.9739 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9619 | 0.9619 | 0.9619 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9343 | -0.9343 | -0.9343 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9802 | 0.9802 | 0.9802 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9936 | -0.9936 | -0.9936 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9514 | 0.9514 | 0.9514 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9412 | -0.9412 | -0.9412 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8704 | 0.8704 | 0.8704 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9768 | -0.9768 | -0.9768 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9901 | 0.9901 | 0.9901 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9330 | -0.9330 | -0.9330 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9058 | 0.9058 | 0.9058 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8477 | -0.8477 | -0.8477 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9848 | 0.9848 | 0.9848 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9696 | -0.9696 | -0.9696 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9768 | 0.9768 | 0.9768 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9783 | -0.9783 | -0.9783 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9886 | 0.9886 | 0.9886 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9929 | -0.9929 | -0.9929 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6297 | 0.6297 | 0.6297 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.6201 | -0.6201 | -0.6201 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9848 | -0.9848 | -0.9848 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9918 | 0.9918 | 0.9918 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9903 | -0.9903 | -0.9903 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0026 | HG02622.hp2 | HG02622.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.3001 | 0.3001 | 0.3001 | 0.0000 | donor | a0026 | HG02622.hp2 | HG02622.hp2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8837320
|
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 |