| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8835642
|
G | C | 0.0353 | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0008a0017a0038others(2): Show | a0008c0012a0008c0024a0008c0038others(4): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(6): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(10): Show | 13 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | c.619G>C | p.Gly207Arg | 650/5127 | 619/4365 | 207/1454 | ||
|
chr12:8841397
|
T | C | 0.0326 | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0008a0017a0039others(1): Show | a0008c0012a0008c0024a0008c0038others(3): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(5): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(9): Show | 12 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | c.1109T>C | p.Phe370Ser | 1140/5127 | 1109/4365 | 370/1454 | ||
|
chr12:8843328
|
AAG | A | 0.0272 | frameshift_variant | HIGH | HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show |
a0008a0013 | a0008c0012a0008c0024a0008c0038others(1): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(2): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(7): Show | 10 | 368 | -2 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | c.1444_1445delAG | p.Ser482fs | 1475/5127 | 1444/4365 | 482/1454 | ||
|
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 | ||
|
chr12:8863977
|
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 | a0008 | 482 | 7 | 7 | 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 | -0.1530 | -0.1478 | -0.1409 | 0.0122 | acceptor | a0008 | HG03453.hp2 | HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.5347 | 0.5123 | 0.5067 | 0.0280 | donor | a0008 | HG03195.hp2 | HG02965.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.4513 | -0.4346 | -0.4024 | 0.0489 | acceptor | a0008 | HG03130.hp2 NA19240.hp1 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.7961 | 0.7813 | 0.7716 | 0.0245 | donor | a0008 | HG03130.hp2 NA19240.hp1 |
HG02965.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9796 | -0.9758 | -0.9695 | 0.0101 | acceptor | a0008 | HG03130.hp2 NA19240.hp1 |
HG02965.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9830 | 0.9829 | 0.9802 | 0.0028 | donor | a0008 | HG02559.hp2 HG03195.hp2 HG03453.hp2 |
HG03130.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9845 | -0.9821 | -0.9817 | 0.0028 | acceptor | a0008 | HG02965.hp1 | HG02559.hp2 HG03195.hp2 HG03453.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9026 | 0.9024 | 0.9018 | 0.0009 | donor | a0008 | HG02965.hp1 | HG03453.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9419 | -0.9392 | -0.9392 | 0.0027 | acceptor | a0008 | HG03453.hp2 | HG01884.hp2 HG02559.hp2 HG03130.hp2 HG03195.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.4094 | 0.4052 | 0.4052 | 0.0042 | donor | a0008 | HG03453.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.4247 | -0.4247 | -0.4197 | 0.0049 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
HG03453.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.7979 | 0.7914 | 0.7914 | 0.0065 | donor | a0008 | HG03453.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7680 | -0.7463 | -0.7463 | 0.0217 | acceptor | a0008 | HG03453.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9828 | 0.9828 | 0.9827 | 0.0001 | donor | a0008 | HG02965.hp1 | HG03453.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9917 | -0.9917 | -0.9912 | 0.0005 | acceptor | a0008 | HG02965.hp1 | HG03453.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9968 | 0.9968 | 0.9968 | 0.0000 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG03195.hp2 NA19240.hp1 |
HG02965.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9966 | -0.9965 | -0.9964 | 0.0001 | acceptor | a0008 | HG03453.hp2 | HG01884.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9982 | 0.9982 | 0.9981 | 0.0001 | donor | a0008 | HG01884.hp2 NA19240.hp1 |
HG03130.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0008 | HG02965.hp1 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9961 | 0.9956 | 0.9942 | 0.0019 | donor | a0008 | HG01884.hp2 NA19240.hp1 |
HG03130.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9990 | -0.9990 | -0.9989 | 0.0001 | acceptor | a0008 | HG02559.hp2 HG03195.hp2 HG03453.hp2 |
HG03130.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9974 | 0.9974 | 0.9974 | 0.0001 | donor | a0008 | HG02559.hp2 | HG03130.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.8796 | -0.8793 | -0.8441 | 0.0355 | acceptor | a0008 | HG01884.hp2 NA19240.hp1 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9868 | 0.9866 | 0.9863 | 0.0005 | donor | a0008 | HG02965.hp1 HG03195.hp2 HG03453.hp2 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9852 | -0.9850 | -0.9828 | 0.0024 | acceptor | a0008 | HG02965.hp1 HG03195.hp2 HG03453.hp2 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9906 | 0.9878 | 0.9878 | 0.0028 | donor | a0008 | HG02559.hp2 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9956 | -0.9952 | -0.9951 | 0.0005 | acceptor | a0008 | HG02559.hp2 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9851 | 0.9849 | 0.9846 | 0.0005 | donor | a0008 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
HG02965.hp1 HG03195.hp2 HG03453.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9771 | -0.9756 | -0.9754 | 0.0017 | acceptor | a0008 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
HG02965.hp1 HG03195.hp2 HG03453.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9954 | 0.9952 | 0.9952 | 0.0003 | donor | a0008 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0008 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9826 | 0.9825 | 0.9825 | 0.0002 | donor | a0008 | HG03195.hp2 | HG02559.hp2 HG02965.hp1 HG03453.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9669 | -0.9666 | -0.9665 | 0.0004 | acceptor | a0008 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9810 | 0.9810 | 0.9810 | 0.0000 | donor | a0008 | HG02559.hp2 HG02965.hp1 HG03453.hp2 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9935 | -0.9935 | -0.9935 | 0.0000 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9354 | 0.9336 | 0.9336 | 0.0018 | donor | a0008 | HG03195.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9316 | -0.9316 | -0.9149 | 0.0166 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8659 | 0.8643 | 0.8643 | 0.0016 | donor | a0008 | HG03195.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9775 | -0.9775 | -0.9771 | 0.0004 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9917 | 0.9917 | 0.9899 | 0.0018 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9343 | -0.9264 | -0.9264 | 0.0079 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9126 | 0.9126 | 0.9104 | 0.0022 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8637 | -0.8517 | -0.8517 | 0.0119 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9863 | 0.9863 | 0.9852 | 0.0011 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9727 | -0.9727 | -0.9662 | 0.0065 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9974 | 0.9973 | 0.9973 | 0.0001 | donor | a0008 | HG03195.hp2 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9747 | 0.9747 | 0.9699 | 0.0047 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9758 | -0.9758 | -0.9718 | 0.0040 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9889 | 0.9889 | 0.9823 | 0.0067 | donor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9956 | -0.9956 | -0.9949 | 0.0008 | acceptor | a0008 | HG01884.hp2 HG02559.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9958 | 0.9955 | 0.9955 | 0.0003 | donor | a0008 | HG02559.hp2 HG03453.hp2 |
HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9930 | -0.9930 | -0.9928 | 0.0003 | acceptor | a0008 | HG02559.hp2 HG03453.hp2 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9965 | 0.9964 | 0.9964 | 0.0001 | donor | a0008 | HG02559.hp2 HG03453.hp2 |
HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9967 | -0.9967 | -0.9967 | 0.0001 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9965 | 0.9930 | 0.9929 | 0.0036 | donor | a0008 | HG02559.hp2 | HG01884.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9990 | -0.9967 | -0.9966 | 0.0024 | acceptor | a0008 | HG02559.hp2 | HG02965.hp1 HG03130.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9938 | 0.9886 | 0.9876 | 0.0062 | donor | a0008 | HG03195.hp2 | HG01884.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9952 | -0.9929 | -0.9929 | 0.0023 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6682 | 0.6320 | 0.6314 | 0.0367 | donor | a0008 | HG02559.hp2 | HG02965.hp1 HG03130.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.6972 | -0.6207 | -0.6197 | 0.0775 | acceptor | a0008 | HG03195.hp2 | HG02965.hp1 HG03130.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9959 | 0.9937 | 0.9936 | 0.0023 | donor | a0008 | HG03195.hp2 | HG01884.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9896 | -0.9851 | -0.9849 | 0.0047 | acceptor | a0008 | HG03453.hp2 | HG02965.hp1 HG03130.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9919 | 0.9919 | 0.9914 | 0.0005 | donor | a0008 | HG01884.hp2 NA19240.hp1 |
HG02559.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9905 | -0.9904 | -0.9903 | 0.0002 | acceptor | a0008 | HG01884.hp2 NA19240.hp1 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9949 | 0.9949 | 0.9948 | 0.0001 | donor | a0008 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9961 | -0.9960 | -0.9960 | 0.0001 | acceptor | a0008 | HG03195.hp2 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9913 | 0.9893 | 0.9893 | 0.0019 | donor | a0008 | HG03195.hp2 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9968 | -0.9968 | -0.9963 | 0.0006 | acceptor | a0008 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.hp1 |
HG03195.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.3521 | 0.2562 | 0.2562 | 0.0958 | donor | a0008 | HG02559.hp2 | HG01884.hp2 HG02965.hp1 HG03130.hp2 NA19240.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 |
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chr12:8881276
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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 |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
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AHAPIDS ahapids
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ACHAPIDS achapids
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ACTHAPIDS acthapids
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ACTGHAPIDS actghapids
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haplotypeids haplotypeids
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af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8826064:splice 8826064:variant goto | A2ML1intron_variantc.409+2182T>C | FOXJ2 Small_Intestine_Terminal_Ileum 4.772 1.172 | 407089356 | a0001a0002a0003a0004a0005others(35): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(65): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(84): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(351): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(358): Show |
0.993 | 3 | 3 | 10 | chr12_8826064_T_C_b38 | + | MODIFIER | chr12 | T | C | TogoVar |
| 8852296:splice 8852296:variant goto | A2ML1missense_variantc.2550C>Ap.Asp others(6): Show |
CLEC2D Cells_Cultured_fibroblasts 4.065 0.363 | 356380343 | a0001a0002a0003a0004a0005others(30): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(75): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(338): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(345): Show |
0.984 | 19 | 21 | 10 | chr12_8852296_C_A_b38 | + | MODERATE | chr12 | C | A | TogoVar |
| 8867893:splice 8867893:variant goto | A2ML1missense_variantc.3769A>Gp.Met others(7): Show |
RIMKLB Adipose_Subcutaneous 4.679 0.182 | 264563312 | a0001a0002a0003a0005a0007others(21): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(58): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(307): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(313): Show |
0.821 | 227 | 254 | 10 | chr12_8867893_A_G_b38 | + | MODERATE | chr12 | A | G | TogoVar |
| 8867893:splice 8867893:variant goto | A2ML1missense_variantc.3769A>Gp.Met others(7): Show |
RIMKLB Adipose_Visceral_Omentum 5.353 0.218 | 264563312 | a0001a0002a0003a0005a0007others(21): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(58): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(307): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(313): Show |
0.817 | 197 | 214 | 10 | chr12_8867893_A_G_b38 | + | MODERATE | chr12 | A | G | TogoVar |
| 8867893:splice 8867893:variant goto | A2ML1missense_variantc.3769A>Gp.Met others(7): Show |
CD69 Brain_Hippocampus 5.299 -0.278 | 264563312 | a0001a0002a0003a0005a0007others(21): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(58): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(307): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(313): Show |
0.821 | 79 | 91 | 10 | chr12_8867893_A_G_b38 | + | MODERATE | chr12 | A | G | TogoVar |
| 8867893:splice 8867893:variant goto | A2ML1missense_variantc.3769A>Gp.Met others(7): Show |
RIMKLB Nerve_Tibial 7.063 0.160 | 264563312 | a0001a0002a0003a0005a0007others(21): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(58): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(307): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(313): Show |
0.818 | 221 | 243 | 10 | chr12_8867893_A_G_b38 | + | MODERATE | chr12 | A | G | TogoVar |
| 8834954:splice 8834954:variant goto | A2ML1intron_variantc.483+272T>C | RIMKLB Adipose_Visceral_Omentum 6.078 0.246 | 376381340 | a0001a0002a0003a0004a0005others(32): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0006a0001c0001t0008others(76): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057a0001c0001t0001g0064a0001c0001t0001g0065others(335): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(341): Show |
0.849 | 164 | 176 | 10 | chr12_8834954_T_C_b38 | + | MODIFIER | chr12 | T | C | TogoVar |
| 8834954:splice 8834954:variant goto | A2ML1intron_variantc.483+272T>C | A2ML1 Brain_Cerebellar_Hemisphere 4.124 -0.291 | 376381340 | a0001a0002a0003a0004a0005others(32): Show | a0001c0001a0001c0002a0001c0006a0001c0008a0001c0035others(58): Show |