| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8851792
|
G | A | 0.0190 | missense_variant | MODERATE | HG00544.hp1 HG03688.hp2 NA18943.hp1 others(4): Show |
a0007 | a0007c0013a0007c0034a0007c0062 | a0007c0013t0001a0007c0034t0001a0007c0062t0002 | a0007c0013t0001g0158a0007c0013t0001g0172a0007c0013t0001g0211others(4): Show | 7 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | c.2243G>A | p.Gly748Glu | 2274/5127 | 2243/4365 | 748/1454 | ||
|
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 | ||
|
chr12:8861159
|
C | T | 0.5054 | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(183): Show |
a0001a0005a0007others(6): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(180): Show | 186 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/36 | c.3364C>T | p.Arg1122Trp | 3395/5127 | 3364/4365 | 1122/1454 | ||
|
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 | a0007 | 1454 | 7 | 0 | 0 | 6 | 0 | 1 | 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 | -0.1570 | -0.1454 | -0.1403 | 0.0166 | acceptor | a0007 | NA19074.hp2 | HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.5456 | 0.5123 | 0.4833 | 0.0624 | donor | a0007 | NA19074.hp2 | NA18943.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.4513 | -0.4139 | -0.3741 | 0.0773 | acceptor | a0007 | HG03688.hp2 | NA18972.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.8010 | 0.7843 | 0.7701 | 0.0309 | donor | a0007 | NA19074.hp2 | NA18943.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9801 | -0.9726 | -0.9675 | 0.0126 | acceptor | a0007 | NA19074.hp2 | NA18943.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9825 | 0.9814 | 0.9787 | 0.0038 | donor | a0007 | NA18972.hp1 NA19074.hp2 |
NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9876 | -0.9871 | -0.9852 | 0.0024 | acceptor | a0007 | NA18972.hp1 NA19074.hp2 |
HG00544.hp1 HG03688.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9431 | 0.9397 | 0.9397 | 0.0034 | donor | a0007 | NA18943.hp1 NA18943.hp2 |
HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9618 | -0.9606 | -0.9606 | 0.0012 | acceptor | a0007 | NA18943.hp1 NA18943.hp2 |
HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.3600 | 0.3600 | 0.3267 | 0.0333 | donor | a0007 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.2671 | -0.2210 | -0.2210 | 0.0461 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.8033 | 0.8033 | 0.7694 | 0.0339 | donor | a0007 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7808 | -0.7808 | -0.7554 | 0.0255 | acceptor | a0007 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9813 | 0.9811 | 0.9807 | 0.0006 | donor | a0007 | NA18943.hp1 NA18943.hp2 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9901 | -0.9896 | -0.9893 | 0.0008 | acceptor | a0007 | HG03688.hp2 | NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9970 | 0.9969 | 0.9969 | 0.0000 | donor | a0007 | HG03688.hp2 | NA18972.hp1 NA19074.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9964 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9980 | 0.9980 | 0.9980 | 0.0000 | donor | a0007 | HG00544.hp1 NA18943.hp1 NA18943.hp2 NA19081.hp1 |
NA18972.hp1 NA19074.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA19081.hp1 |
NA18972.hp1 NA19074.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9945 | 0.9942 | 0.9942 | 0.0003 | donor | a0007 | NA18972.hp1 NA19074.hp2 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9987 | -0.9987 | -0.9986 | 0.0001 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA19081.hp1 |
NA18972.hp1 NA19074.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9984 | 0.9983 | 0.9983 | 0.0001 | donor | a0007 | HG03688.hp2 | HG00544.hp1 NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.9913 | -0.9892 | -0.9892 | 0.0022 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9880 | 0.9880 | 0.9871 | 0.0010 | donor | a0007 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9864 | -0.9858 | -0.9856 | 0.0007 | acceptor | a0007 | HG03688.hp2 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9892 | 0.9890 | 0.9881 | 0.0010 | donor | a0007 | HG03688.hp2 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9955 | -0.9954 | -0.9951 | 0.0004 | acceptor | a0007 | HG03688.hp2 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9842 | 0.9841 | 0.9835 | 0.0007 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9797 | -0.9793 | -0.9793 | 0.0004 | acceptor | a0007 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9836 | 0.9832 | 0.9832 | 0.0004 | donor | a0007 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9679 | -0.9677 | -0.9677 | 0.0002 | acceptor | a0007 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9818 | 0.9818 | 0.9818 | 0.0000 | donor | a0007 | NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9942 | -0.9942 | -0.9942 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 |
NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9711 | 0.9711 | 0.9709 | 0.0002 | donor | a0007 | NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9486 | -0.9479 | -0.9472 | 0.0014 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8422 | 0.8385 | 0.8371 | 0.0051 | donor | a0007 | HG00544.hp1 | HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9797 | -0.9797 | -0.9795 | 0.0002 | acceptor | a0007 | NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9917 | 0.9917 | 0.9910 | 0.0007 | donor | a0007 | HG03688.hp2 | HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9270 | -0.9269 | -0.9227 | 0.0042 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9130 | 0.9130 | 0.8986 | 0.0144 | donor | a0007 | NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8543 | -0.8521 | -0.8516 | 0.0027 | acceptor | a0007 | HG00544.hp1 | HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9870 | 0.9863 | 0.9863 | 0.0006 | donor | a0007 | HG00544.hp1 | HG03688.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9729 | -0.9728 | -0.9716 | 0.0013 | acceptor | a0007 | HG03688.hp2 | HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0007 | HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 others(1): Show |
HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9744 | 0.9744 | 0.9732 | 0.0013 | donor | a0007 | HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 others(1): Show |
HG00544.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9757 | -0.9755 | -0.9755 | 0.0002 | acceptor | a0007 | HG00544.hp1 | HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9891 | 0.9890 | 0.9890 | 0.0001 | donor | a0007 | HG00544.hp1 | HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9955 | -0.9955 | -0.9955 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9960 | 0.9960 | 0.9960 | 0.0000 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9934 | -0.9934 | -0.9934 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9936 | 0.9936 | 0.9936 | 0.0000 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9910 | -0.9910 | -0.9910 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18943.hp2 NA18972.hp1 others(2): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9990 | -0.9990 | -0.9989 | 0.0000 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9938 | 0.9935 | 0.9935 | 0.0003 | donor | a0007 | NA18943.hp2 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9948 | -0.9948 | -0.9946 | 0.0002 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6692 | 0.6692 | 0.6500 | 0.0192 | donor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.6751 | -0.6751 | -0.6340 | 0.0411 | acceptor | a0007 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9949 | 0.9948 | 0.9948 | 0.0002 | donor | a0007 | NA18943.hp2 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9872 | -0.9869 | -0.9869 | 0.0002 | acceptor | a0007 | NA18943.hp2 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9918 | 0.9907 | 0.9907 | 0.0011 | donor | a0007 | NA18943.hp2 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9904 | -0.9899 | -0.9899 | 0.0005 | acceptor | a0007 | NA18943.hp2 | HG00544.hp1 HG03688.hp2 NA18943.hp1 NA18972.hp1 NA19074.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9949 | 0.9949 | 0.9947 | 0.0002 | donor | a0007 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9961 | -0.9960 | -0.9959 | 0.0002 | acceptor | a0007 | HG03688.hp2 | NA18943.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9901 | 0.9900 | 0.9897 | 0.0004 | donor | a0007 | HG03688.hp2 | NA18943.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9968 | -0.9968 | -0.9968 | 0.0000 | acceptor | a0007 | NA18943.hp2 | HG00544.hp1 NA18972.hp1 NA19074.hp2 NA19081.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.3104 | 0.3075 | 0.2562 | 0.0541 | donor | a0007 | NA18943.hp1 | NA18943.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8823305
|
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 |
| 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
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
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 |