| 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 |
| 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 |
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 | -0.9703 | -0.9682 | -0.9609 | 0.0094 | acceptor | a0001 | NA19030.hp2 | HG01261.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26842339 | - | 2 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001 | HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 others(81): Show |
HG00741.hp2 HG02451.hp1 HG02717.hp2 |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26842685 | - | 2 | 0.9993 | 0.9992 | 0.9991 | 0.0001 | donor | a0001 | HG00423.hp1 NA18972.hp2 NA18984.hp1 NA19006.hp2 NA19072.hp1 others(1): Show |
HG01123.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841858 | - | 3 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0001 | HG01255.hp1 HG02257.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp1 others(1): Show |
NA19030.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841990 | - | 3 | 0.9991 | 0.9991 | 0.9983 | 0.0008 | donor | a0001 | HG00423.hp1 NA18972.hp2 NA18984.hp1 NA19006.hp2 NA19072.hp1 others(1): Show |
HG02965.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840998 | - | 4 | -0.9733 | -0.9723 | -0.9711 | 0.0021 | acceptor | a0001 | NA19030.hp2 | HG02965.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26841165 | - | 4 | 0.9527 | 0.9432 | 0.9396 | 0.0131 | donor | a0001 | NA18992.hp2 | HG00423.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840276 | - | 5 | -0.9817 | -0.9809 | -0.9794 | 0.0023 | acceptor | a0001 | HG01255.hp1 HG02257.hp2 HG02895.hp2 HG03540.hp1 HG03579.hp1 |
HG01952.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840562 | - | 5 | 0.9956 | 0.9948 | 0.9940 | 0.0016 | donor | a0001 | HG01255.hp1 HG02257.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp1 others(1): Show |
HG03209.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839875 | - | 6 | -0.9955 | -0.9954 | -0.9952 | 0.0002 | acceptor | a0001 | HG03209.hp2 | HG02647.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26840061 | - | 6 | 0.9926 | 0.9924 | 0.9921 | 0.0005 | donor | a0001 | NA18948.hp2 NA18984.hp2 NA18993.hp2 NA19091.hp2 |
HG01255.hp1 HG02257.hp2 HG02895.hp2 HG03540.hp1 HG03579.hp1 |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839587 | - | 7 | -0.9996 | -0.9996 | -0.9995 | 0.0001 | acceptor | a0001 | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 others(211): Show |
HG01952.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26839762 | - | 7 | 0.9993 | 0.9993 | 0.9991 | 0.0002 | donor | a0001 | HG01952.hp1 | NA20129.hp2 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838439 | - | 8 | -0.9883 | -0.9877 | -0.9845 | 0.0038 | acceptor | a0001 | NA20129.hp1 | HG04228.hp1 | ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838614 | - | 8 | 0.9948 | 0.9946 | 0.9936 | 0.0012 | donor | a0001 | NA20129.hp1 | HG01168.hp2 HG02572.hp2 HG04228.hp1 NA20905.hp1 |
ADAMTS1 | chr21 | 26830755 | 26850409 |
| 26838278 | - | 9 | 0.9966 | 0.9958 | 0.9934 | 0.0031 | donor | a0001 | HG01069.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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 26842332:splice 26842332:variant goto | c.1077+7G>A | 712819 | Benign | ADAMTS1:9510 LOC126653334:126653334 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 2 | 2 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0040a0001c0001t0016g0093 | HG01192.hp2 HG02622.hp2 HG02896.hp1 |
LOW | chr21 | C | T | TogoVar |
| 26839772:splice 26839772:variant goto | c.1853-10C>G | 730730 | Benign | ADAMTS1:9510 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 | NA20129.hp2 | MODIFIER | chr21 | G | C | TogoVar |
| 26841994:splice 26841994:variant goto | c.1078-5dupT | 778902 | Benign | ADAMTS1:9510 LOC126653334:126653334 |
SO:0001627 intron_variant |
MedGen:C3661900 | - | 1 | 1 | 4 | 4 | a0001 | a0001c0005 | a0001c0005t0019a0001c0005t0037a0001c0005t0038a0001c0005t0039 | a0001c0005t0019g0021a0001c0005t0037g0062a0001c0005t0038g0063a0001c0005t0039g0064 | HG01255.hp1 HG02257.hp2 HG02895.hp2 HG02965.hp2 HG03540.hp1 others(1): Show |
LOW | chr21 | C | CA | TogoVar |
| 26841919:splice 26841919:variant goto | c.1149A>Gp.Arg383Arg | 716248 | Benign | ADAMTS1:9510 | SO:0001819 synonymous_variant |
MedGen:C3661900 | - | 1 | 1 | 1 | 1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0159 | NA19030.hp2 | LOW | chr21 | T | C | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 |