| geneid | 9510 |
|---|---|
| ensemblid | ENSG00000154734.16 |
| hgncid | 217 |
| symbol | ADAMTS1 |
| name | ADAM metallopeptidase with thrombospondin type 1 motif 1 |
| refseq_nuc | NM_006988.5 |
| refseq_prot | NP_008919.3 |
| ensembl_nuc | ENST00000284984.8 |
| ensembl_prot | ENSP00000284984.2 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 26835755 |
| end | 26845409 |
| strand | - |
| ver | v1.2 |
| region | chr21:26835755-26845409 |
| region5000 | chr21:26830755-26850409 |
| regionname0 | ADAMTS1_chr21_26835755_26845409 |
| regionname5000 | ADAMTS1_chr21_26830755_26850409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr21:26844276
|
C | G | 0.6021 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(74): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(133): Show | 289 | 480 | 0 | ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | c.679G>C | p.Ala227Pro | 1134/5183 | 679/2904 | 227/967 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr21:26840441
|
G | A | 0.5229 | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(248): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(53): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(105): Show | 251 | 480 | 0 | ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 5/9 | c.1500C>T | p.Pro500Pro | 1955/5183 | 1500/2904 | 500/967 | ||
|
chr21:26844355
|
G | C | 0.1708 | synonymous_variant | LOW | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(79): Show |
a0001a0003a0016 | a0001c0003a0001c0006a0003c0010others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(18): Show | a0001c0003t0001g0006a0001c0003t0001g0146a0001c0003t0001g0147others(29): Show | 82 | 480 | 0 | ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | c.600C>G | p.Val200Val | 1055/5183 | 600/2904 | 200/967 | ||
|
chr21:26844373
|
G | T | 0.5979 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(284): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(72): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(131): Show | 287 | 480 | 0 | ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | c.582C>A | p.Val194Val | 1037/5183 | 582/2904 | 194/967 | ||
|
chr21:26844859
|
T | G | 0.6021 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(286): Show |
a0001a0004a0006others(8): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(74): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015others(133): Show | 289 | 480 | 0 | ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 1/9 | c.96A>C | p.Pro32Pro | 551/5183 | 96/2904 | 32/967 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS1 | 0/1 | a0001 | 967 | 277 | 80 | 48 | 101 | 11 | 36 | subcellular location copy fasta | chr21 | 26830755 | 26850409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS1 | 0/1 | c0003 | 2904 | 70 | 1 | 11 | 45 | 3 | 9 | copy fasta | chr21 | 26830755 | 26850409 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS1 | 0/1 | a0001c0003 | 70 | 1 | 11 | 45 | 3 | 9 | 2904 | copy fasta | chr21 | 26830755 | 26850409 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 26844225 | - | 1 | -0.9677 | -0.9676 | -0.9609 | 0.0068 | acceptor | a0001c0003 | HG00408.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp2 HG01361.hp2 others(25): Show |
HG01261.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26842339 | - | 2 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0003 | HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(60): Show |
NA18972.hp2 NA18984.hp1 NA19072.hp1 NA19082.hp2 |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26842685 | - | 2 | 0.9993 | 0.9992 | 0.9992 | 0.0001 | donor | a0001c0003 | NA18972.hp2 NA18984.hp1 NA19072.hp1 NA19082.hp2 |
HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(57): Show |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841858 | - | 3 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0003 | HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(65): Show |
HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(65): Show |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841990 | - | 3 | 0.9991 | 0.9991 | 0.9991 | 0.0001 | donor | a0001c0003 | NA18972.hp2 NA18984.hp1 NA19072.hp1 NA19082.hp2 |
HG01261.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840998 | - | 4 | -0.9724 | -0.9723 | -0.9723 | 0.0002 | acceptor | a0001c0003 | NA19091.hp2 | NA19075.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841165 | - | 4 | 0.9438 | 0.9431 | 0.9421 | 0.0016 | donor | a0001c0003 | NA19091.hp2 | NA19082.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840276 | - | 5 | -0.9809 | -0.9809 | -0.9807 | 0.0002 | acceptor | a0001c0003 | NA19091.hp2 | NA19075.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840562 | - | 5 | 0.9949 | 0.9948 | 0.9948 | 0.0001 | donor | a0001c0003 | NA19091.hp2 | NA19072.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839875 | - | 6 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0001c0003 | HG01109.hp2 HG02735.hp1 NA19091.hp2 |
HG00280.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840061 | - | 6 | 0.9926 | 0.9924 | 0.9924 | 0.0003 | donor | a0001c0003 | NA19091.hp2 | HG00280.hp1 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 others(61): Show |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839587 | - | 7 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0001c0003 | HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 others(61): Show |
NA19091.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839762 | - | 7 | 0.9993 | 0.9993 | 0.9993 | 0.0000 | donor | a0001c0003 | HG01109.hp2 HG02735.hp1 |
NA19091.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838439 | - | 8 | -0.9879 | -0.9877 | -0.9867 | 0.0013 | acceptor | a0001c0003 | HG01109.hp2 HG02735.hp1 |
NA19072.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838614 | - | 8 | 0.9948 | 0.9946 | 0.9943 | 0.0004 | donor | a0001c0003 | NA19075.hp2 | HG01109.hp2 HG02735.hp1 |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838278 | - | 9 | 0.9966 | 0.9958 | 0.9934 | 0.0031 | donor | a0001c0003 | HG02071.hp1 | HG00280.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr21:26832105
|
c.*5474A>G | Adolescent idiopathic scoliosis | a0001a0002a0003a0006a0012 | a0001c0001a0001c0003a0001c0005a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005a0001c0001t0009a0001c0001t0011others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0047a0001c0001t0001g0092others(58): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 others(100): Show |
The coexistence of copy number variations (CNVs) a others(141): Show |
196 cases, 303 controls/ | NR | CYYR1 - ADAMTS1 | rs229037-? | - | MODIFIER | chr21 | T | C |
|
chr21:26837348
|
c.*231T>C | Lung function (FVC) | a0001a0002a0003a0005a0007others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0006a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0020a0001c0001t0030a0001c0001t0040others(25): Show | a0001c0001t0003g0005a0001c0001t0010g0026a0001c0001t0020g0044a0001c0001t0020g0102a0001c0001t0030g0112others(41): Show | HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(146): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 372,000 European ancestry individual others(2): Show |
ADAMTS1 | rs13615-? | - | MODIFIER | chr21 | A | G | |
|
chr21:26837076
|
c.*503A>G | Height0.0091 | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0005a0002c0002a0003c0004others(1): Show | a0001c0001t0011a0001c0001t0041a0001c0001t0053a0001c0001t0058a0001c0003t0052others(8): Show | a0001c0001t0011g0038a0001c0001t0011g0041a0001c0001t0011g0046a0001c0001t0011g0083a0001c0001t0011g0085others(12): Show | HG00323.hp1 HG00642.hp2 HG00738.hp2 HG01106.hp1 HG01346.hp2 others(17): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ADAMTS1 | rs12140-C | - | MODIFIER | chr21 | T | C | |
|
chr21:26837348
|
c.*231T>C |
Lung function (forced vital capacity)7.1 others(2): Show |
a0001a0002a0003a0005a0007others(3): Show | a0001c0001a0001c0003a0001c0005a0001c0006a0002c0002others(7): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0020a0001c0001t0030a0001c0001t0040others(25): Show | a0001c0001t0003g0005a0001c0001t0010g0026a0001c0001t0020g0044a0001c0001t0020g0102a0001c0001t0030g0112others(41): Show | HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(146): Show |
Multi-ancestry genome-wide association analyses im others(112): Show |
475,645 European ancestry individuals, 8,590 Afric others(151): Show |
ADAMTS1 | rs13615-A | - | MODIFIER | chr21 | A | G |