| geneid | 14 |
|---|---|
| ensemblid | ENSG00000127837.10 |
| hgncid | 18 |
| symbol | AAMP |
| name | angio associated migratory cell protein |
| refseq_nuc | NM_001087.5 |
| refseq_prot | NP_001078.2 |
| ensembl_nuc | ENST00000248450.9 |
| ensembl_prot | ENSP00000248450.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 218264129 |
| end | 218270137 |
| strand | - |
| ver | v1.2 |
| region | chr2:218264129-218270137 |
| region5000 | chr2:218259129-218275137 |
| regionname0 | AAMP_chr2_218264129_218270137 |
| regionname5000 | AAMP_chr2_218259129_218275137 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218270003
|
G | A | 0.0075 | synonymous_variant | LOW | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029a0001c0003t0001g0056 | 3 | 400 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 1/11 | c.84C>T | p.Ile28Ile | 135/1760 | 84/1305 | 28/434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218264337
|
A | G | 0.9550 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(379): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(47): Show | 382 | 400 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 11/11 | c.*196T>C | 196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 1/1 | a0001 | 434 | 376 | 92 | 75 | 154 | 16 | 37 | subcellular location copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | c0003 | 1305 | 3 | 3 | 0 | 0 | 0 | 0 | copy fasta | chr2 | 218259129 | 218275137 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/1 | t0001 | 456 | 380 | 77 | 80 | 168 | 16 | 38 | copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | a0001c0003 | 3 | 3 | 0 | 0 | 0 | 0 | 1305 | copy fasta | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | a0001c0003t0001 | 3 | 3 | 0 | 0 | 0 | 0 | 1760 | copy fasta | chr2 | 218259129 | 218275137 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218269966 | - | 1 | -0.9753 | -0.9753 | -0.9753 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218269382 | - | 2 | -0.9959 | -0.9959 | -0.9959 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218269534 | - | 2 | 0.9609 | 0.9609 | 0.9609 | 0.0000 | donor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267494 | - | 3 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267613 | - | 3 | 0.9858 | 0.9858 | 0.9858 | 0.0000 | donor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266847 | - | 4 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266986 | - | 4 | 0.9829 | 0.9828 | 0.9828 | 0.0000 | donor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266443 | - | 5 | -0.9657 | -0.9657 | -0.9657 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266587 | - | 5 | 0.9679 | 0.9679 | 0.9679 | 0.0000 | donor | a0001c0003t0001 | HG03195.hp2 HG03209.hp2 |
HG01884.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218266064 | - | 6 | -0.9741 | -0.9741 | -0.9741 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266147 | - | 6 | 0.9741 | 0.9741 | 0.9741 | 0.0000 | donor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265831 | - | 7 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
HG01884.hp2 HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265946 | - | 7 | 0.9854 | 0.9854 | 0.9854 | 0.0000 | donor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265579 | - | 8 | -0.9441 | -0.9438 | -0.9438 | 0.0002 | acceptor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265682 | - | 8 | 0.9477 | 0.9477 | 0.9474 | 0.0003 | donor | a0001c0003t0001 | HG03195.hp2 HG03209.hp2 |
HG01884.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218265371 | - | 9 | -0.9851 | -0.9847 | -0.9847 | 0.0004 | acceptor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265461 | - | 9 | 0.9728 | 0.9728 | 0.9728 | 0.0000 | donor | a0001c0003t0001 | HG03195.hp2 HG03209.hp2 |
HG01884.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218265020 | - | 10 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0003t0001 | HG01884.hp2 | HG03195.hp2 HG03209.hp2 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265174 | - | 10 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0001c0003t0001 | HG03195.hp2 HG03209.hp2 |
HG01884.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 218264608 | - | 11 | 0.7644 | 0.7644 | 0.7578 | 0.0066 | donor | a0001c0003t0001 | HG03195.hp2 HG03209.hp2 |
HG01884.hp2 | AAMP | chr2 | 218259129 | 218275137 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218271207:splice 218271207:variant goto | c.-1121G>A | 1296572 | Benign | PNKD:25953 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 2 | 2 | 5 | a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0041a0001c0003t0001g0029a0001c0003t0001g0056 | HG01243.hp2 HG01884.hp2 HG02559.hp2 HG02818.hp2 HG02886.hp1 others(7): Show |
MODIFIER | chr2 | C | T | 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 |
|---|