| geneid | 11096 |
|---|---|
| ensemblid | ENSG00000154736.6 |
| hgncid | 221 |
| symbol | ADAMTS5 |
| name | ADAM metallopeptidase with thrombospondin type 1 motif 5 |
| refseq_nuc | NM_007038.5 |
| refseq_prot | NP_008969.2 |
| ensembl_nuc | ENST00000284987.6 |
| ensembl_prot | ENSP00000284987.5 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 26917922 |
| end | 26967088 |
| strand | - |
| ver | v1.2 |
| region | chr21:26917922-26967088 |
| region5000 | chr21:26912922-26972088 |
| regionname0 | ADAMTS5_chr21_26917922_26967088 |
| regionname5000 | ADAMTS5_chr21_26912922_26972088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr21:26930036
|
A | G | 0.7286 | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0005a0001c0006others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(134): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027others(264): Show | 290 | 398 | 0 | ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 7/8 | c.2075T>C | p.Leu692Pro | 2772/9621 | 2075/2793 | 692/930 | ||
|
chr21:26932893
|
C | T | 0.1131 | missense_variant | MODERATE | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(42): Show |
a0003a0011a0013 | a0003c0003a0003c0031a0003c0041others(2): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023others(13): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(39): Show | 45 | 398 | 0 | ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 5/8 | c.1841G>A | p.Arg614His | 2538/9621 | 1841/2793 | 614/930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS5 | 0/0 | a0003 | 930 | 40 | 3 | 5 | 28 | 2 | 2 | subcellular location copy fasta | chr21 | 26912922 | 26972088 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 26965288 | - | 1 | -0.9228 | -0.9086 | -0.8955 | 0.0273 | acceptor | a0003 | NA18957.hp2 | NA18906.hp1 | ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26954739 | - | 2 | -0.9966 | -0.9957 | -0.9934 | 0.0032 | acceptor | a0003 | HG00544.hp2 HG02056.hp2 HG02135.hp2 |
HG01109.hp1 HG02735.hp1 |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26954871 | - | 2 | 0.9977 | 0.9976 | 0.9976 | 0.0001 | donor | a0003 | HG00738.hp2 HG00741.hp2 |
HG01109.hp1 HG02735.hp1 |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26943380 | - | 3 | -0.9948 | -0.9947 | -0.9947 | 0.0001 | acceptor | a0003 | HG00738.hp2 | HG00621.hp1 NA18981.hp2 |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26943547 | - | 3 | 0.9959 | 0.9958 | 0.9955 | 0.0004 | donor | a0003 | HG00738.hp2 | HG03927.hp1 | ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26934466 | - | 4 | -0.9639 | -0.9638 | -0.9639 | 0.0001 | acceptor | a0003 | NA18940.hp2 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26934749 | - | 4 | 0.9811 | 0.9811 | 0.9811 | 0.0000 | donor | a0003 | NA18940.hp2 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26932861 | - | 5 | -0.9980 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26933044 | - | 5 | 0.9940 | 0.9939 | 0.9939 | 0.0000 | donor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26932004 | - | 6 | -0.9952 | -0.9948 | -0.9948 | 0.0004 | acceptor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26932179 | - | 6 | 0.9954 | 0.9951 | 0.9951 | 0.0003 | donor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26929886 | - | 7 | -0.9900 | -0.9892 | -0.9892 | 0.0009 | acceptor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26930061 | - | 7 | 0.9813 | 0.9781 | 0.9781 | 0.0031 | donor | a0003 | NA18961.hp1 | HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 others(34): Show |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 26924620 | - | 8 | 0.8963 | 0.8959 | 0.8959 | 0.0004 | donor | a0003 | HG02523.hp1 | HG00597.hp2 HG00609.hp2 NA18954.hp1 NA18992.hp1 NA19054.hp1 |
ADAMTS5 | chr21 | 26912922 | 26972088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 26930036:splice 26930036:variant goto | c.2075T>Cp.Leu692Pro | 1249546 | Benign | ADAMTS5:11096 | SO:0001583 missense_variant |
MedGen:C3661900 | - | 16 | 36 | 137 | 267 | a0001a0003a0004a0006a0007others(11): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(132): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(262): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(285): Show |
MODERATE | chr21 | A | G | TogoVar |
| 26932893:splice 26932893:variant goto | c.1841G>Ap.Arg614His | 1181193 | Benign | ADAMTS5:11096 | SO:0001583 missense_variant |
MedGen:C3661900 | - | 3 | 5 | 16 | 42 | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
MODERATE | chr21 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr21:26932893
|
c.1841G>Ap.Arg614His | Blood protein levels1.0757439 | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
Co-regulatory networks of human serum proteins lin others(22): Show |
3,200 European ancestry individuals/ | ADAMTS5 | ADAMTS5 | rs2830585-C | - | MODERATE | chr21 | C | T |
|
chr21:26932893
|
c.1841G>Ap.Arg614His | Appendicular lean mass0.0510702 | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
Genome-wide Associations Reveal Human-Mouse Geneti others(58): Show |
181,862 European ancestry elderly individuals/ | NR | ADAMTS5 | rs2830585-T | - | MODERATE | chr21 | C | T |
|
chr21:26921481
|
c.*2572C>T | Height | a0003a0004a0011a0013 | a0003c0003a0003c0031a0003c0041a0004c0008a0011c0016others(1): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(12): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(38): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(41): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ADAMTS5 | rs2830581-? | - | MODIFIER | chr21 | G | A | |
|
chr21:26969886
|
c.-3495A>G | Waist circumference adjusted for body mass indexothers(17): Show | a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(146): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(309): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
GWAS of allometric body-shape indices in UK Bioban others(109): Show |
219,872 British ancestry women/ | ADAMTS5 | ADAMTS5 - GPX1P2 | rs233577-T | - | MODIFIER | chr21 | T | C |
|
chr21:26921481
|
c.*2572C>T | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(37): Show | a0003a0004a0011a0013 | a0003c0003a0003c0031a0003c0041a0004c0008a0011c0016others(1): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(12): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(38): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(41): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ADAMTS5 | rs2830581-A | - | MODIFIER | chr21 | G | A | |
|
chr21:26930036
|
c.2075T>Cp.Leu692Pro | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(37): Show | a0001a0003a0004a0006a0007others(11): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(132): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(262): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(285): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ADAMTS5 | rs226794-A | - | MODERATE | chr21 | A | G | |
|
chr21:26933158
|
c.1690-114A>C | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(32): Show | a0001a0003a0007a0011a0013others(1): Show | a0001c0001a0001c0005a0003c0003a0003c0031a0003c0041others(4): Show | a0001c0001t0133a0001c0005t0071a0003c0003t0002a0003c0003t0007a0003c0003t0023others(19): Show | a0001c0001t0133g0283a0001c0005t0071g0047a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(47): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(50): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ADAMTS5 | rs2830586-T | - | MODIFIER | chr21 | T | G | |
|
chr21:26932893
|
c.1841G>Ap.Arg614His | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(37): Show | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
Connecting genetic risk to disease end points thro others(36): Show |
997 European ancestry individuals/338 Greater Midd others(103): Show |
ADAMTS5 | rs2830585-T | - | MODERATE | chr21 | C | T | |
|
chr21:26921481
|
c.*2572C>T | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(36): Show | a0003a0004a0011a0013 | a0003c0003a0003c0031a0003c0041a0004c0008a0011c0016others(1): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(12): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(38): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(41): Show |
Whole Genome Sequence Analysis of the Plasma Prote others(72): Show |
1,852 African American or Afro-Caribbean individua others(118): Show |
ADAMTS5 | rs2830581-? | - | MODIFIER | chr21 | G | A | |
|
chr21:26933158
|
c.1690-114A>C | Height0.0175 | a0001a0003a0007a0011a0013others(1): Show | a0001c0001a0001c0005a0003c0003a0003c0031a0003c0041others(4): Show | a0001c0001t0133a0001c0005t0071a0003c0003t0002a0003c0003t0007a0003c0003t0023others(19): Show | a0001c0001t0133g0283a0001c0005t0071g0047a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(47): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(50): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ADAMTS5 | rs2830586-G | - | MODIFIER | chr21 | T | G | |
|
chr21:26933158
|
c.1690-114A>C | A disintegrin and metalloproteinase with thrombospondin motifs 5 levels (ADAMTS5.3168.8.2)others(54): Show | a0001a0003a0007a0011a0013others(1): Show | a0001c0001a0001c0005a0003c0003a0003c0031a0003c0041others(4): Show | a0001c0001t0133a0001c0005t0071a0003c0003t0002a0003c0003t0007a0003c0003t0023others(19): Show | a0001c0001t0133g0283a0001c0005t0071g0047a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(47): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(50): Show |
Genomic atlas of the human plasma proteome. | 3,301 European ancestry individuals/ | ADAMTS5 | rs2830586-G | - | MODIFIER | chr21 | T | G | |
|
chr21:26932893
|
c.1841G>Ap.Arg614His | Height0.0213 | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
A saturated map of common genetic variants associa others(22): Show |
472,730 East Asian ancestry individuals/ | ADAMTS5 | rs2830585-T | - | MODERATE | chr21 | C | T | |
|
chr21:26932893
|
c.1841G>Ap.Arg614His | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(39): Show | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | ADAMTS5 | rs2830585-T | - | MODERATE | chr21 | C | T | |
|
chr21:26930036
|
c.2075T>Cp.Leu692Pro | A disintegrin and metalloproteinase with thrombospondin motifs 5 levelsothers(39): Show | a0001a0003a0004a0006a0007others(11): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(132): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(262): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(285): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | ADAMTS5 | rs226794-A | - | MODERATE | chr21 | A | G | |
|
chr21:26921481
|
c.*2572C>T |
Standing height (UKB data field 50)0.011 others(6): Show |
a0003a0004a0011a0013 | a0003c0003a0003c0031a0003c0041a0004c0008a0011c0016others(1): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(12): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(38): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(41): Show |
A scalable variational inference approach for incr others(36): Show |
394,642 European ancestry individuals/ | ADAMTS5 | rs2830581-A | - | MODIFIER | chr21 | G | A |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 26969590:splice 26969590:variant goto | ADAMTS5upstream_gene_variantc.-3199C>Tothers(3): Show | ADAMTS5 Brain_Putamen_basal_ganglia 6.366 0.478 | 1937156321 | a0001a0002a0003a0004a0005others(14): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(32): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(151): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(316): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(347): Show |
0.852 | 73 | 75 | 10 | chr21_26969590_G_A_b38 | - | MODIFIER | chr21 | G | A | TogoVar |
| 26969886:splice 26969886:variant goto | ADAMTS5upstream_gene_variantc.-3495A>Gothers(3): Show | ADAMTS5 Brain_Putamen_basal_ganglia 6.437 0.474 | 1836151314 | a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0001c0005a0001c0006a0001c0014a0001c0018others(31): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0016a0001c0001t0018a0001c0001t0025others(146): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0317a0001c0001t0001g0325others(309): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
0.850 | 74 | 76 | 10 | chr21_26969886_T_C_b38 | - | MODIFIER | chr21 | T | C | TogoVar |
| 26933158:splice 26933158:variant goto | ADAMTS5intron_variantc.1690-114A>C | ADAMTS5 Brain_Putamen_basal_ganglia 6.083 -0.445 | 692452 | a0001a0003a0007a0011a0013others(1): Show | a0001c0001a0001c0005a0003c0003a0003c0031a0003c0041others(4): Show | a0001c0001t0133a0001c0005t0071a0003c0003t0002a0003c0003t0007a0003c0003t0023others(19): Show | a0001c0001t0133g0283a0001c0005t0071g0047a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180others(47): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(50): Show |
0.166 | 83 | 84 | 10 | chr21_26933158_T_G_b38 | - | MODIFIER | chr21 | T | G | TogoVar |
| 26921481:splice 26921481:variant goto | ADAMTS53_prime_UTR_variantc.*2572C>Tothers(1): Show | ADAMTS5 Brain_Putamen_basal_ganglia 5.938 -0.461 | 461743 | a0003a0004a0011a0013 | a0003c0003a0003c0031a0003c0041a0004c0008a0011c0016others(1): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(12): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(38): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(41): Show |
0.183 | 79 | 80 | 10 | chr21_26921481_G_A_b38 | - | MODIFIER | chr21 | G | A | TogoVar |
| 26932893:splice 26932893:variant goto | ADAMTS5missense_variantc.1841G>Ap.A others(8): Show |
ADAMTS5 Brain_Putamen_basal_ganglia 6.177 -0.457 | 351642 | a0003a0011a0013 | a0003c0003a0003c0031a0003c0041a0011c0016a0013c0021 | a0003c0003t0002a0003c0003t0007a0003c0003t0023a0003c0003t0072a0003c0003t0076others(11): Show | a0003c0003t0002g0020a0003c0003t0002g0022a0003c0003t0002g0180a0003c0003t0002g0197a0003c0003t0002g0198others(37): Show | HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
0.160 | 80 | 81 | 10 | chr21_26932893_C_T_b38 | - | MODERATE | chr21 | C | T | TogoVar |
| 26915377:splice 26915377:variant goto | ADAMTS5downstream_gene_variantc.*8676C>A others(5): Show |
ADAMTS5 Brain_Putamen_basal_ganglia 5.656 -0.738 | 1122 | a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0007 | a0003c0003t0002g0020a0003c0003t0007g0269 | HG01175.hp2 HG01516.hp2 HG01517.hp1 |
0.038 | 18 | 19 | 10 | chr21_26915377_G_T_b38 | - | MODIFIER | chr21 | G | T | TogoVar |
