| geneid | 2 |
|---|---|
| ensemblid | ENSG00000175899.15 |
| hgncid | 7 |
| symbol | A2M |
| name | alpha-2-macroglobulin |
| refseq_nuc | NM_000014.6 |
| refseq_prot | NP_000005.3 |
| ensembl_nuc | ENST00000318602.12 |
| ensembl_prot | ENSP00000323929.8 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 9067708 |
| end | 9115919 |
| strand | - |
| ver | v1.2 |
| region | chr12:9067708-9115919 |
| region5000 | chr12:9062708-9120919 |
| regionname0 | A2M_chr12_9067708_9115919 |
| regionname5000 | A2M_chr12_9062708_9120919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9095637
|
T | C | 0.9910 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(272): Show | 329 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 16/36 | c.1915A>G | p.Asn639Asp | 1985/4610 | 1915/4425 | 639/1474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9101645
|
G | A | 0.0361 | synonymous_variant | LOW | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0003a0001c0021 | a0001c0003t0002a0001c0021t0002 | a0001c0003t0002g0003a0001c0003t0002g0014a0001c0003t0002g0048others(5): Show | 12 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | c.1296C>T | p.Tyr432Tyr | 1366/4610 | 1296/4425 | 432/1474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9115877
|
A | C | 0.4368 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0009others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012others(119): Show | 145 | 332 | 0 | A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 1/36 | c.-28T>G | 28 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/1 | a0001 | 1474 | 242 | 58 | 33 | 110 | 7 | 33 | subcellular location copy fasta | chr12 | 9062708 | 9120919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | c0003 | 4425 | 11 | 0 | 4 | 0 | 0 | 7 | copy fasta | chr12 | 9062708 | 9120919 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | t0002 | 186 | 144 | 61 | 32 | 27 | 4 | 20 | copy fasta | chr12 | 9062708 | 9120919 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0001c0003 | 11 | 0 | 4 | 0 | 0 | 7 | 4425 | copy fasta | chr12 | 9062708 | 9120919 |
| 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2M | 0/0 | a0001c0003t0002 | 11 | 0 | 4 | 0 | 0 | 7 | 4610 | copy fasta | chr12 | 9062708 | 9120919 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9115764 | - | 1 | -0.0734 | -0.0734 | -0.0734 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9113360 | - | 2 | -0.9889 | -0.9889 | -0.9889 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9113543 | - | 2 | 0.9913 | 0.9913 | 0.9913 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9112377 | - | 3 | -0.9642 | -0.9642 | -0.9642 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9112536 | - | 3 | 0.9519 | 0.9519 | 0.9519 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9112159 | - | 4 | -0.9778 | -0.9778 | -0.9778 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9112211 | - | 4 | 0.9088 | 0.9088 | 0.9088 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9110314 | - | 5 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9110334 | - | 5 | 0.9947 | 0.9947 | 0.9947 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9109867 | - | 6 | -0.9237 | -0.9237 | -0.9237 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9110035 | - | 6 | 0.1035 | 0.1035 | 0.1035 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9109321 | - | 7 | -0.9212 | -0.9212 | -0.9212 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9109405 | - | 7 | 0.9407 | 0.9407 | 0.9407 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9107524 | - | 8 | -0.9721 | -0.9721 | -0.9721 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9107644 | - | 8 | 0.9692 | 0.9691 | 0.9688 | 0.0004 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106491 | - | 9 | -0.9954 | -0.9953 | -0.9954 | 0.0000 | acceptor | a0001c0003t0002 | HG03927.hp1 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9106605 | - | 9 | 0.9976 | 0.9976 | 0.9976 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106236 | - | 10 | -0.9046 | -0.9046 | -0.8993 | 0.0054 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9106345 | - | 10 | 0.9917 | 0.9915 | 0.9915 | 0.0002 | donor | a0001c0003t0002 | HG03927.hp1 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9104239 | - | 11 | -0.9929 | -0.9926 | -0.9926 | 0.0003 | acceptor | a0001c0003t0002 | HG03927.hp1 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9104400 | - | 11 | 0.9933 | 0.9931 | 0.9931 | 0.0002 | donor | a0001c0003t0002 | HG03927.hp1 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9101447 | - | 12 | -0.9771 | -0.9771 | -0.9771 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9101674 | - | 12 | 0.9630 | 0.9630 | 0.9630 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9101144 | - | 13 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9101207 | - | 13 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9099381 | - | 14 | -0.9922 | -0.9922 | -0.9921 | 0.0001 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(3): Show |
HG02738.hp2 HG03942.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| 9099523 | - | 14 | 0.9933 | 0.9932 | 0.9932 | 0.0001 | donor | a0001c0003t0002 | HG03927.hp1 | HG01070.hp2 HG01071.hp2 HG01358.hp1 HG02698.hp1 HG02738.hp2 others(4): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9098607 | - | 15 | -0.9980 | -0.9979 | -0.9979 | 0.0001 | acceptor | a0001c0003t0002 | HG03927.hp1 | HG02738.hp2 HG03942.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| 9098756 | - | 15 | 0.9979 | 0.9979 | 0.9978 | 0.0001 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01358.hp1 HG02698.hp1 HG03490.hp2 others(2): Show |
HG02738.hp2 HG03942.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| 9095539 | - | 16 | -0.9956 | -0.9955 | -0.9950 | 0.0006 | acceptor | a0001c0003t0002 | HG01358.hp1 HG02698.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp2 |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9095700 | - | 16 | 0.9996 | 0.9996 | 0.9995 | 0.0001 | donor | a0001c0003t0002 | HG01358.hp1 HG02698.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp2 |
HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9094973 | - | 17 | -0.9880 | -0.9880 | -0.9873 | 0.0007 | acceptor | a0001c0003t0002 | HG03942.hp2 | HG01070.hp2 HG01071.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| 9095084 | - | 17 | 0.9938 | 0.9931 | 0.9922 | 0.0016 | donor | a0001c0003t0002 | HG01243.hp2 | HG03927.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093465 | - | 18 | -0.9965 | -0.9958 | -0.9958 | 0.0007 | acceptor | a0001c0003t0002 | HG03942.hp2 | HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9093579 | - | 18 | 0.9930 | 0.9928 | 0.9921 | 0.0008 | donor | a0001c0003t0002 | HG03942.hp2 | HG01070.hp2 HG01071.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| 9091201 | - | 19 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0003t0002 | HG01243.hp2 HG01358.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp2 others(3): Show |
HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9091429 | - | 19 | 0.9909 | 0.9904 | 0.9903 | 0.0006 | donor | a0001c0003t0002 | HG01243.hp2 | HG03942.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9090356 | - | 20 | -0.9634 | -0.9634 | -0.9633 | 0.0001 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02738.hp2 others(4): Show |
HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9090482 | - | 20 | 0.9880 | 0.9880 | 0.9878 | 0.0002 | donor | a0001c0003t0002 | HG03942.hp2 | HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089902 | - | 21 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0003t0002 | HG02698.hp1 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02738.hp2 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9090023 | - | 21 | 0.9972 | 0.9971 | 0.9971 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02738.hp2 others(5): Show |
HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9089200 | - | 22 | -0.9669 | -0.9668 | -0.9665 | 0.0004 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 |
HG01243.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9089251 | - | 22 | 0.9598 | 0.9598 | 0.9597 | 0.0001 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 |
HG02698.hp1 | A2M | chr12 | 9062708 | 9120919 |
| 9080094 | - | 23 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9080177 | - | 23 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9079639 | - | 24 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9079815 | - | 24 | 0.9962 | 0.9962 | 0.9962 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9079244 | - | 25 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9079331 | - | 25 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9077701 | - | 26 | -0.8736 | -0.8736 | -0.8736 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9077857 | - | 26 | 0.9148 | 0.9148 | 0.9148 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9077346 | - | 27 | -0.9638 | -0.9638 | -0.9637 | 0.0001 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9077420 | - | 27 | 0.9928 | 0.9928 | 0.9928 | 0.0000 | donor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9076756 | - | 28 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9076936 | - | 28 | 0.9905 | 0.9905 | 0.9904 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9074560 | - | 29 | -0.9777 | -0.9704 | -0.9704 | 0.0073 | acceptor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9074783 | - | 29 | 0.9913 | 0.9902 | 0.9902 | 0.0011 | donor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9072653 | - | 30 | -0.9844 | -0.9843 | -0.9843 | 0.0001 | acceptor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9072871 | - | 30 | 0.9741 | 0.9740 | 0.9740 | 0.0001 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9072359 | - | 31 | -0.9901 | -0.9898 | -0.9898 | 0.0002 | acceptor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9072486 | - | 31 | 0.9935 | 0.9935 | 0.9935 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
HG02738.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9070488 | - | 32 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9070578 | - | 32 | 0.9946 | 0.9946 | 0.9946 | 0.0000 | donor | a0001c0003t0002 | HG02738.hp2 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(5): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9069745 | - | 33 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9069813 | - | 33 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9068740 | - | 34 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9068842 | - | 34 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0003t0002 | HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 HG02698.hp1 others(6): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9068183 | - | 35 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0001c0003t0002 | HG01358.hp1 HG02698.hp1 HG02738.hp2 HG03942.hp2 HG04228.hp2 |
HG01070.hp2 HG01071.hp2 HG01243.hp2 HG03490.hp2 HG03492.hp2 others(1): Show |
A2M | chr12 | 9062708 | 9120919 |
| 9068224 | - | 35 | 0.9949 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0003t0002 | HG03927.hp1 | HG01243.hp2 | A2M | chr12 | 9062708 | 9120919 |
| 9067839 | - | 36 | 0.8678 | 0.8663 | 0.8655 | 0.0024 | donor | a0001c0003t0002 | HG03927.hp1 | HG01358.hp1 HG02698.hp1 HG02738.hp2 HG03942.hp2 HG04228.hp2 |
A2M | chr12 | 9062708 | 9120919 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9090027:splice 9090027:variant goto | c.2597-4T>A | 3060838 | Benign | A2M:2 KLRG1:10219 |
SO:0001627 intron_variant |
. | - | 3 | 5 | 5 | 41 | a0001a0012a0016 | a0001c0001a0001c0003a0001c0021a0012c0014a0016c0013 | a0001c0001t0002a0001c0003t0002a0001c0021t0002a0012c0014t0002a0016c0013t0002 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046a0001c0001t0002g0047others(36): Show | HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 others(45): Show |
LOW | chr12 | A | T | TogoVar |
| 9093580:splice 9093580:variant goto | c.2126-6_2126-2delCCATA | 402328 | Benign | A2M:2 KLRG1:10219 |
SO:0001574 splice_acceptor_variant |
MedGen:CN169374|MedGen:CN517202|. | - | 3 | 5 | 5 | 41 | a0001a0012a0016 | a0001c0001a0001c0003a0001c0021a0012c0014a0016c0013 | a0001c0001t0002a0001c0003t0002a0001c0021t0002a0012c0014t0002a0016c0013t0002 | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046a0001c0001t0002g0047others(36): Show | HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 others(45): Show |
HIGH | chr12 | CTATGG | C | TogoVar |
| 9101645:splice 9101645:variant goto | c.1296C>Tp.Tyr432Tyr | 3057071 | Benign | A2M:2 KLRG1:10219 |
SO:0001819 synonymous_variant |
. | - | 1 | 2 | 2 | 8 | a0001 | a0001c0003a0001c0021 | a0001c0003t0002a0001c0021t0002 | a0001c0003t0002g0003a0001c0003t0002g0014a0001c0003t0002g0048a0001c0003t0002g0073a0001c0003t0002g0074others(3): Show | HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01358.hp1 others(7): Show |
LOW | chr12 | G | A | TogoVar |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr12:9086638
|
c.2770+2562G>A | Cortical thickness | a0001a0002a0009a0012a0013others(2): Show | a0001c0001a0001c0003a0001c0005a0001c0015a0001c0021others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0005t0002a0001c0015t0002a0001c0021t0002others(9): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0046others(109): Show | HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 others(132): Show |
Vertex-wise multivariate genome-wide association s others(76): Show |
35,657 White British ancestry individuals/ | NR | A2M | rs226415-T | - | MODIFIER | chr12 | C | T |