| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8851801
|
C | T | 0.0136 | missense_variant | MODERATE | HG02280.hp1 HG02572.hp2 HG03471.hp2 others(2): Show |
a0016a0036a0038 | a0016c0030a0016c0043a0036c0055others(1): Show | a0016c0030t0002a0016c0043t0002a0036c0055t0004others(1): Show | a0016c0030t0002g0022a0016c0030t0002g0025a0016c0043t0002g0126others(2): Show | 5 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | c.2252C>T | p.Ala751Val | 2283/5127 | 2252/4365 | 751/1454 | ||
|
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 | a0016 | 1454 | 3 | 3 | 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 | -0.1515 | -0.1485 | -0.1483 | 0.0032 | acceptor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.5343 | 0.5307 | 0.5292 | 0.0051 | donor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.4232 | -0.4230 | -0.4138 | 0.0093 | acceptor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.7805 | 0.7772 | 0.7706 | 0.0099 | donor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9763 | -0.9757 | -0.9730 | 0.0032 | acceptor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9807 | 0.9735 | 0.9693 | 0.0115 | donor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9910 | -0.9883 | -0.9883 | 0.0027 | acceptor | a0016 | HG02280.hp1 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9406 | 0.9405 | 0.9350 | 0.0057 | donor | a0016 | HG02280.hp1 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9648 | -0.9636 | -0.9634 | 0.0014 | acceptor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.3665 | 0.3170 | 0.3170 | 0.0495 | donor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.2317 | -0.2118 | -0.2118 | 0.0199 | acceptor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.8092 | 0.8092 | 0.7962 | 0.0130 | donor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7445 | -0.7445 | -0.7433 | 0.0012 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9815 | 0.9768 | 0.9768 | 0.0046 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9901 | -0.9900 | -0.9900 | 0.0001 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9970 | 0.9967 | 0.9967 | 0.0003 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9981 | 0.9981 | 0.9980 | 0.0001 | donor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9995 | -0.9994 | -0.9994 | 0.0001 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9951 | 0.9934 | 0.9934 | 0.0017 | donor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9988 | -0.9988 | -0.9986 | 0.0001 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9985 | 0.9984 | 0.9984 | 0.0001 | donor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.9922 | -0.9920 | -0.9896 | 0.0026 | acceptor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9901 | 0.9896 | 0.9896 | 0.0006 | donor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9778 | -0.9772 | -0.9751 | 0.0027 | acceptor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9901 | 0.9899 | 0.9887 | 0.0014 | donor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9950 | -0.9950 | -0.9944 | 0.0006 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9862 | 0.9854 | 0.9853 | 0.0008 | donor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9754 | -0.9737 | -0.9735 | 0.0019 | acceptor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9956 | 0.9954 | 0.9954 | 0.0002 | donor | a0016 | NA21309.hp1 | HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9959 | -0.9959 | -0.9959 | 0.0001 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9829 | 0.9829 | 0.9827 | 0.0002 | donor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9699 | -0.9698 | -0.9690 | 0.0009 | acceptor | a0016 | HG02572.hp2 | NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9809 | 0.9808 | 0.9808 | 0.0001 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9925 | -0.9925 | -0.9924 | 0.0001 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9470 | 0.9467 | 0.9467 | 0.0003 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9353 | -0.9343 | -0.9343 | 0.0011 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8764 | 0.8742 | 0.8742 | 0.0022 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9773 | -0.9773 | -0.9769 | 0.0004 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9907 | 0.9907 | 0.9907 | 0.0001 | donor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9333 | -0.9333 | -0.9331 | 0.0002 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9171 | 0.9171 | 0.9171 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 |
NA21309.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8585 | -0.8584 | -0.8584 | 0.0001 | acceptor | a0016 | NA21309.hp1 | HG02280.hp1 HG02572.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9842 | 0.9842 | 0.9842 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9682 | -0.9682 | -0.9682 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9498 | 0.9498 | 0.9498 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9503 | -0.9503 | -0.9503 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9905 | 0.9905 | 0.9905 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9957 | 0.9957 | 0.9957 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9931 | -0.9931 | -0.9931 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9939 | 0.9939 | 0.9939 | 0.0001 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9886 | 0.9882 | 0.9883 | 0.0003 | donor | a0016 | HG02572.hp2 | HG02280.hp1 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9934 | -0.9934 | -0.9933 | 0.0000 | acceptor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6456 | 0.6456 | 0.6448 | 0.0008 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.6117 | -0.6117 | -0.6108 | 0.0009 | acceptor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9949 | 0.9949 | 0.9949 | 0.0000 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9851 | -0.9851 | -0.9850 | 0.0001 | acceptor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9894 | -0.9894 | -0.9894 | 0.0000 | acceptor | a0016 | HG02572.hp2 | HG02280.hp1 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0016 | HG02280.hp1 HG02572.hp2 NA21309.hp1 |
HG02280.hp1 HG02572.hp2 NA21309.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9887 | 0.9887 | 0.9886 | 0.0001 | donor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9960 | -0.9960 | -0.9960 | 0.0000 | acceptor | a0016 | HG02280.hp1 NA21309.hp1 |
HG02572.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.2665 | 0.2655 | 0.2655 | 0.0009 | donor | a0016 | HG02572.hp2 | HG02280.hp1 NA21309.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8837320
|
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 |