| 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 | ||
|
chr12:8863977
|
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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:8851916
|
G | A | 0.9103 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(332): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0006others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(326): Show | 335 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | c.2367G>A | p.Pro789Pro | 2398/5127 | 2367/4365 | 789/1454 | ||
|
chr12:8858075
|
G | A | 0.1929 | synonymous_variant | LOW | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(68): Show |
a0002a0003a0004others(5): Show | a0002c0004a0002c0007a0003c0005others(12): Show | a0002c0004t0001a0002c0004t0003a0002c0007t0001others(17): Show | a0002c0004t0001g0299a0002c0004t0001g0338a0002c0004t0003g0002others(65): Show | 71 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/36 | c.3237G>A | p.Val1079Val | 3268/5127 | 3237/4365 | 1079/1454 | ||
|
chr12:8868316
|
A | G | 0.6603 | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0008a0001c0035others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(235): Show | 243 | 368 | 0 | A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/36 | c.4020A>G | p.Gln1340Gln | 4051/5127 | 4020/4365 | 1340/1454 |
| 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 | 0/1 | a0002 | 1454 | 77 | 18 | 9 | 36 | 2 | 11 | subcellular location copy fasta | chr12 | 8817621 | 8881787 |
| 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2ML1 | 0/0 | c0004 | 4365 | 22 | 7 | 1 | 11 | 1 | 2 | copy fasta | chr12 | 8817621 | 8881787 |
| 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2ML1 | 0/0 | a0002c0004 | 22 | 7 | 1 | 11 | 1 | 2 | 4365 | 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 | -0.1574 | -0.1478 | -0.1366 | 0.0207 | acceptor | a0002c0004 | NA18969.hp2 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823182 | + | 2 | 0.5468 | 0.5123 | 0.5085 | 0.0383 | donor | a0002c0004 | NA18969.hp2 | HG02027.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823365 | + | 2 | -0.4556 | -0.4333 | -0.3945 | 0.0611 | acceptor | a0002c0004 | HG01516.hp2 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823720 | + | 3 | 0.8015 | 0.7896 | 0.7706 | 0.0308 | donor | a0002c0004 | NA18969.hp2 | HG02886.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8823882 | + | 3 | -0.9801 | -0.9759 | -0.9699 | 0.0102 | acceptor | a0002c0004 | NA18969.hp2 | HG02135.hp2 HG04228.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8829727 | + | 4 | 0.9822 | 0.9817 | 0.9755 | 0.0067 | donor | a0002c0004 | NA18971.hp2 | HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8829779 | + | 4 | -0.9916 | -0.9854 | -0.9851 | 0.0065 | acceptor | a0002c0004 | HG02647.hp1 | HG00423.hp2 HG02135.hp2 NA18989.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8834662 | + | 5 | 0.9431 | 0.9402 | 0.9391 | 0.0040 | donor | a0002c0004 | HG02027.hp1 | HG04228.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8834682 | + | 5 | -0.9670 | -0.9606 | -0.9592 | 0.0078 | acceptor | a0002c0004 | HG02040.hp1 | HG02886.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835507 | + | 6 | 0.3630 | 0.3600 | 0.3103 | 0.0527 | donor | a0002c0004 | HG01516.hp2 HG02486.hp2 HG02809.hp1 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8835666 | + | 6 | -0.2720 | -0.2210 | -0.2193 | 0.0527 | acceptor | a0002c0004 | HG02040.hp1 NA19004.hp1 |
HG04204.hp1 HG04228.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8836255 | + | 7 | 0.8033 | 0.8030 | 0.7923 | 0.0111 | donor | a0002c0004 | HG03098.hp1 | HG02040.hp1 NA19004.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8836339 | + | 7 | -0.7915 | -0.7807 | -0.7526 | 0.0389 | acceptor | a0002c0004 | HG02040.hp1 NA19004.hp1 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837440 | + | 8 | 0.9822 | 0.9811 | 0.9774 | 0.0048 | donor | a0002c0004 | HG02647.hp1 | NA19004.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8837566 | + | 8 | -0.9919 | -0.9897 | -0.9893 | 0.0026 | acceptor | a0002c0004 | HG02040.hp1 | HG02027.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838336 | + | 9 | 0.9970 | 0.9969 | 0.9966 | 0.0005 | donor | a0002c0004 | HG01884.hp1 | HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8838450 | + | 9 | -0.9968 | -0.9963 | -0.9962 | 0.0006 | acceptor | a0002c0004 | NA18945.hp1 | NA19004.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839113 | + | 10 | 0.9980 | 0.9980 | 0.9978 | 0.0002 | donor | a0002c0004 | HG02040.hp1 HG02486.hp2 HG02809.hp1 NA19004.hp1 |
NA18945.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8839222 | + | 10 | -0.9995 | -0.9995 | -0.9995 | 0.0001 | acceptor | a0002c0004 | HG02486.hp2 HG02809.hp1 NA18969.hp2 NA19054.hp1 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841369 | + | 11 | 0.9953 | 0.9946 | 0.9932 | 0.0021 | donor | a0002c0004 | HG02486.hp2 HG02809.hp1 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8841536 | + | 11 | -0.9989 | -0.9987 | -0.9986 | 0.0003 | acceptor | a0002c0004 | HG02647.hp1 NA18969.hp2 NA19054.hp1 |
HG00423.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843134 | + | 12 | 0.9985 | 0.9982 | 0.9980 | 0.0006 | donor | a0002c0004 | HG02040.hp1 | HG02886.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8843361 | + | 12 | -0.9924 | -0.9683 | -0.9643 | 0.0281 | acceptor | a0002c0004 | HG03098.hp1 | HG01884.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845442 | + | 13 | 0.9893 | 0.9874 | 0.9867 | 0.0027 | donor | a0002c0004 | HG03098.hp1 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8845502 | + | 13 | -0.9862 | -0.9855 | -0.9776 | 0.0086 | acceptor | a0002c0004 | HG02523.hp1 | HG03098.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8846077 | + | 14 | 0.9901 | 0.9880 | 0.9880 | 0.0021 | donor | a0002c0004 | HG03098.hp1 | HG02523.hp1 HG02886.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8846222 | + | 14 | -0.9954 | -0.9951 | -0.9950 | 0.0004 | acceptor | a0002c0004 | HG00423.hp2 | HG02486.hp2 HG02809.hp1 NA18945.hp1 NA18969.hp2 NA18971.hp2 others(1): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8847549 | + | 15 | 0.9861 | 0.9846 | 0.9835 | 0.0026 | donor | a0002c0004 | HG03098.hp1 | HG02040.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8847698 | + | 15 | -0.9797 | -0.9754 | -0.9712 | 0.0084 | acceptor | a0002c0004 | HG02040.hp1 | NA18945.hp1 NA18969.hp2 NA19054.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8848720 | + | 16 | 0.9954 | 0.9951 | 0.9949 | 0.0005 | donor | a0002c0004 | HG03098.hp1 | HG02040.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8848914 | + | 16 | -0.9959 | -0.9959 | -0.9957 | 0.0002 | acceptor | a0002c0004 | HG03098.hp1 | HG02040.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849669 | + | 17 | 0.9832 | 0.9826 | 0.9825 | 0.0007 | donor | a0002c0004 | NA18945.hp1 NA18969.hp2 NA19054.hp1 |
NA19004.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8849759 | + | 17 | -0.9690 | -0.9666 | -0.9665 | 0.0025 | acceptor | a0002c0004 | HG03098.hp1 | NA19004.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850160 | + | 18 | 0.9812 | 0.9809 | 0.9808 | 0.0004 | donor | a0002c0004 | HG00423.hp2 | HG03098.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8850274 | + | 18 | -0.9938 | -0.9935 | -0.9925 | 0.0013 | acceptor | a0002c0004 | HG02040.hp1 | HG03098.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8851784 | + | 19 | 0.9361 | 0.9354 | 0.9313 | 0.0048 | donor | a0002c0004 | NA18971.hp2 | HG00423.hp2 NA19004.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8852012 | + | 19 | -0.9289 | -0.9149 | -0.9105 | 0.0184 | acceptor | a0002c0004 | HG00423.hp2 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852210 | + | 20 | 0.8700 | 0.8659 | 0.8648 | 0.0053 | donor | a0002c0004 | HG00423.hp2 NA19004.hp1 |
HG02040.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8852336 | + | 20 | -0.9774 | -0.9771 | -0.9742 | 0.0032 | acceptor | a0002c0004 | NA18945.hp1 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854128 | + | 21 | 0.9904 | 0.9899 | 0.9898 | 0.0006 | donor | a0002c0004 | NA18971.hp2 | HG00423.hp2 NA19004.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8854249 | + | 21 | -0.9343 | -0.9343 | -0.9339 | 0.0004 | acceptor | a0002c0004 | HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 HG02135.hp2 others(11): Show |
HG00423.hp2 NA19004.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8854780 | + | 22 | 0.9115 | 0.9104 | 0.9104 | 0.0011 | donor | a0002c0004 | NA18945.hp1 | HG03098.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8854831 | + | 22 | -0.8652 | -0.8637 | -0.8636 | 0.0016 | acceptor | a0002c0004 | NA18971.hp2 | HG00423.hp2 NA19004.hp1 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8855509 | + | 23 | 0.9860 | 0.9852 | 0.9852 | 0.0008 | donor | a0002c0004 | NA18945.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(15): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8855592 | + | 23 | -0.9712 | -0.9662 | -0.9659 | 0.0053 | acceptor | a0002c0004 | NA18945.hp1 | NA18971.hp2 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857164 | + | 24 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0002c0004 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
NA18945.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8857340 | + | 24 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0002c0004 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(17): Show |
HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(17): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857507 | + | 25 | 0.9702 | 0.9699 | 0.9699 | 0.0003 | donor | a0002c0004 | NA18945.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857588 | + | 25 | -0.9719 | -0.9718 | -0.9718 | 0.0001 | acceptor | a0002c0004 | NA18945.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8857946 | + | 26 | 0.9823 | 0.9823 | 0.9823 | 0.0000 | donor | a0002c0004 | NA18945.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8858102 | + | 26 | -0.9949 | -0.9949 | -0.9949 | 0.0000 | acceptor | a0002c0004 | NA18945.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860881 | + | 27 | 0.9960 | 0.9958 | 0.9958 | 0.0002 | donor | a0002c0004 | HG02523.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8860955 | + | 27 | -0.9928 | -0.9928 | -0.9928 | 0.0000 | acceptor | a0002c0004 | HG02523.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861135 | + | 28 | 0.9965 | 0.9964 | 0.9964 | 0.0001 | donor | a0002c0004 | HG02523.hp1 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(16): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8861297 | + | 28 | -0.9967 | -0.9967 | -0.9967 | 0.0000 | acceptor | a0002c0004 | HG00423.hp2 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp1 others(14): Show |
HG02523.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8863794 | + | 29 | 0.9965 | 0.9963 | 0.9963 | 0.0002 | donor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG02523.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8864008 | + | 29 | -0.9990 | -0.9989 | -0.9989 | 0.0001 | acceptor | a0002c0004 | HG02027.hp1 | HG02523.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8867842 | + | 30 | 0.9938 | 0.9934 | 0.9934 | 0.0004 | donor | a0002c0004 | HG01993.hp1 | HG00423.hp2 HG01516.hp2 HG02040.hp1 HG02135.hp2 HG02523.hp1 others(7): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868057 | + | 30 | -0.9954 | -0.9949 | -0.9949 | 0.0005 | acceptor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG00423.hp2 HG01516.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp2 others(7): Show |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8868230 | + | 31 | 0.6749 | 0.6641 | 0.6607 | 0.0141 | donor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868357 | + | 31 | -0.7014 | -0.6815 | -0.6811 | 0.0203 | acceptor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG02027.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868537 | + | 32 | 0.9965 | 0.9959 | 0.9958 | 0.0007 | donor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG02027.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8868627 | + | 32 | -0.9896 | -0.9895 | -0.9891 | 0.0005 | acceptor | a0002c0004 | HG00423.hp2 HG01516.hp2 HG02040.hp1 HG02523.hp1 NA18945.hp1 others(4): Show |
HG04204.hp1 HG04228.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8869135 | + | 33 | 0.9915 | 0.9914 | 0.9913 | 0.0002 | donor | a0002c0004 | HG01993.hp1 | HG04204.hp1 HG04228.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8869203 | + | 33 | -0.9904 | -0.9903 | -0.9902 | 0.0002 | acceptor | a0002c0004 | HG04204.hp1 HG04228.hp2 |
HG01993.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874425 | + | 34 | 0.9949 | 0.9948 | 0.9946 | 0.0004 | donor | a0002c0004 | HG02135.hp2 NA18989.hp2 |
HG02523.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874527 | + | 34 | -0.9961 | -0.9960 | -0.9959 | 0.0002 | acceptor | a0002c0004 | HG01884.hp1 HG02647.hp1 HG02886.hp2 NA20129.hp2 |
HG02523.hp1 | A2ML1 | chr12 | 8817621 | 8881787 |
| 8874971 | + | 35 | 0.9913 | 0.9912 | 0.9900 | 0.0012 | donor | a0002c0004 | HG01884.hp1 HG02647.hp1 HG02886.hp2 NA20129.hp2 |
HG02135.hp2 NA18989.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8875012 | + | 35 | -0.9968 | -0.9963 | -0.9963 | 0.0005 | acceptor | a0002c0004 | HG02135.hp2 NA18989.hp2 |
HG01884.hp1 HG02647.hp1 HG02886.hp2 NA20129.hp2 |
A2ML1 | chr12 | 8817621 | 8881787 |
| 8876058 | + | 36 | 0.3318 | 0.3306 | 0.3115 | 0.0203 | donor | a0002c0004 | HG01993.hp1 HG03098.hp1 |
HG02809.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 |