| 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 |
|---|
| 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 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:218267958
|
GGTTTTTT | G | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03041.hp2 others(7): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0008 | a0001c0001t0001a0001c0001t0003a0004c0006t0001others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0003g0030others(2): Show | 10 | 400 | 0.0250 | -7 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.275-352_275-346delAAAAAAC | ||||||
|
chr2:218268569
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(383): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(48): Show | 386 | 400 | 0.9650 | 0 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.274+813G>A | ||||||
|
chr2:218268694
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 187 | 400 | 0.4675 | -1 | AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | c.274+687delA |
| 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 | 1/1 | c0001 | 1305 | 369 | 89 | 75 | 152 | 16 | 35 | 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 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | g0019 | 3 | 3 | 0 | 0 | 0 | 0 | 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 | 1/1 | a0001c0001 | 369 | 89 | 75 | 152 | 16 | 35 | 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 | 0/1 | a0001c0001t0001 | 349 | 72 | 75 | 150 | 16 | 35 | 1760 | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AAMP | 0/0 | a0001c0001t0001g0019 | 3 | 3 | 0 | 0 | 0 | 0 | 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 | -0.9839 | -0.9839 | -0.9839 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218269382 | - | 2 | -0.9955 | -0.9955 | -0.9955 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218269534 | - | 2 | 0.9648 | 0.9648 | 0.9648 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267494 | - | 3 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218267613 | - | 3 | 0.9883 | 0.9883 | 0.9883 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266847 | - | 4 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266986 | - | 4 | 0.9819 | 0.9819 | 0.9819 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266443 | - | 5 | -0.9666 | -0.9666 | -0.9666 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266587 | - | 5 | 0.9682 | 0.9682 | 0.9682 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266064 | - | 6 | -0.9739 | -0.9739 | -0.9739 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218266147 | - | 6 | 0.9741 | 0.9741 | 0.9741 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265831 | - | 7 | -0.9983 | -0.9983 | -0.9983 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265946 | - | 7 | 0.9854 | 0.9854 | 0.9854 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265579 | - | 8 | -0.9437 | -0.9437 | -0.9437 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG03486.hp1 | HG02717.hp1 HG02809.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265682 | - | 8 | 0.9480 | 0.9480 | 0.9480 | 0.0000 | donor | a0001c0001t0001g0019 | HG03486.hp1 | HG02717.hp1 HG02809.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265371 | - | 9 | -0.9847 | -0.9847 | -0.9847 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265461 | - | 9 | 0.9728 | 0.9728 | 0.9728 | 0.0000 | donor | a0001c0001t0001g0019 | HG03486.hp1 | HG02717.hp1 HG02809.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265020 | - | 10 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218265174 | - | 10 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
HG02717.hp1 HG02809.hp1 HG03486.hp1 |
AAMP | chr2 | 218259129 | 218275137 |
| 218264608 | - | 11 | 0.7647 | 0.7644 | 0.7644 | 0.0003 | donor | a0001c0001t0001g0019 | HG03486.hp1 | HG02717.hp1 HG02809.hp1 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218272270:splice 218272270:variant goto | c.-2184G>A | 1196909 | Likely_benign | PNKD:25953 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | HG02717.hp1 HG02809.hp1 HG03486.hp1 |
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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | BCS1L Artery_Tibial 4.765 0.446 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.991 | 13 | 13 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | PNKD Testis 6.610 1.069 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.993 | 6 | 6 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218268569:splice 218268569:variant goto | AAMPintron_variantc.274+813G>A | TMBIM1 Whole_Blood 4.012 -0.419 | 6101251 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(46): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
0.991 | 14 | 14 | 10 | chr2_218268569_C_T_b38 | - | MODIFIER | chr2 | C | T | TogoVar |
| 218264337:splice 218264337:variant goto | AAMP3_prime_UTR_variantc.*196T>C | BCS1L Artery_Tibial 3.973 0.328 | 6101150 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001a0001c0004t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
0.984 | 22 | 22 | 10 | chr2_218264337_A_G_b38 | - | MODIFIER | chr2 | A | G | TogoVar |
| 218264337:splice 218264337:variant goto | AAMP3_prime_UTR_variantc.*196T>C | PNKD Testis 4.657 0.694 | 6101150 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0007a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001a0001c0004t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(45): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
0.985 | 12 | 12 | 10 | chr2_218264337_A_G_b38 | - | MODIFIER | chr2 | A | G | TogoVar |