| geneid | 11093 |
|---|---|
| ensemblid | ENSG00000160323.19 |
| hgncid | 1366 |
| symbol | ADAMTS13 |
| name | ADAM metallopeptidase with thrombospondin type 1 motif 13 |
| refseq_nuc | NM_139027.6 |
| refseq_prot | NP_620596.2 |
| ensembl_nuc | ENST00000355699.7 |
| ensembl_prot | ENSP00000347927.2 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 133422367 |
| end | 133459386 |
| strand | + |
| ver | v1.2 |
| region | chr9:133422367-133459386 |
| region5000 | chr9:133417367-133464386 |
| regionname0 | ADAMTS13_chr9_133422367_133459386 |
| regionname5000 | ADAMTS13_chr9_133417367_133464386 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTS13 | 1/1 | a0001 | 1371 | 191 | 48 | 22 | 89 | 10 | 20 | subcellular location copy fasta | chr9 | 133417367 | 133464386 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 133422548 | + | 1 | -0.4738 | -0.4445 | -0.3723 | 0.1016 | acceptor | a0001 | NA20905.hp1 | NA18522.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133423101 | + | 2 | 0.9617 | 0.9408 | 0.9349 | 0.0268 | donor | a0001 | NA18948.hp2 | NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133423167 | + | 2 | -0.9612 | -0.9449 | -0.9400 | 0.0212 | acceptor | a0001 | NA18948.hp2 | HG03490.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133424321 | + | 3 | 0.9930 | 0.9926 | 0.9917 | 0.0013 | donor | a0001 | HG01993.hp2 | HG02451.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133424478 | + | 3 | -0.9897 | -0.9887 | -0.9860 | 0.0038 | acceptor | a0001 | NA18948.hp2 | HG03471.hp2 HG06807.hp2 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133425529 | + | 4 | 0.9569 | 0.9535 | 0.9317 | 0.0253 | donor | a0001 | NA20905.hp1 | HG02451.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133425612 | + | 4 | -0.9627 | -0.9579 | -0.9385 | 0.0241 | acceptor | a0001 | NA20905.hp1 | HG03471.hp2 HG06807.hp2 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133425938 | + | 5 | 0.7259 | 0.7101 | 0.6042 | 0.1217 | donor | a0001 | NA20905.hp1 | NA20300.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133426062 | + | 5 | -0.8568 | -0.8402 | -0.7521 | 0.1047 | acceptor | a0001 | HG01993.hp2 | NA20300.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133426199 | + | 6 | 0.9469 | 0.9349 | 0.9113 | 0.0356 | donor | a0001 | NA19088.hp1 | NA19077.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133426345 | + | 6 | -0.9977 | -0.9975 | -0.9969 | 0.0009 | acceptor | a0001 | NA20905.hp1 | NA19077.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133428634 | + | 7 | 0.8564 | 0.8545 | 0.8234 | 0.0330 | donor | a0001 | NA20905.hp1 | NA19081.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133428771 | + | 7 | -0.9657 | -0.9519 | -0.9351 | 0.0306 | acceptor | a0001 | HG01109.hp1 HG02896.hp1 |
NA19081.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133429939 | + | 8 | 0.3912 | 0.3649 | 0.3353 | 0.0559 | donor | a0001 | HG02015.hp2 | HG03540.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133430101 | + | 8 | -0.9790 | -0.9689 | -0.9259 | 0.0531 | acceptor | a0001 | HG01109.hp1 HG02896.hp1 |
HG02486.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133432588 | + | 9 | 0.8010 | 0.7762 | 0.7660 | 0.0350 | donor | a0001 | HG03486.hp1 | NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133432692 | + | 9 | -0.6888 | -0.6758 | -0.6246 | 0.0642 | acceptor | a0001 | HG01993.hp2 | HG03471.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133433378 | + | 10 | 0.6774 | 0.6615 | 0.5572 | 0.1203 | donor | a0001 | HG02074.hp1 | HG03041.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133433529 | + | 10 | -0.7212 | -0.7032 | -0.6936 | 0.0276 | acceptor | a0001 | HG02083.hp1 | NA18977.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133433641 | + | 11 | 0.4822 | 0.4440 | 0.4237 | 0.0585 | donor | a0001 | HG02895.hp1 | HG01993.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133433704 | + | 11 | -0.5779 | -0.5586 | -0.5509 | 0.0270 | acceptor | a0001 | HG03041.hp2 | NA18977.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133436829 | + | 12 | 0.9562 | 0.9488 | 0.9427 | 0.0136 | donor | a0001 | NA18977.hp2 | NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133436955 | + | 12 | -0.9751 | -0.9649 | -0.9568 | 0.0183 | acceptor | a0001 | HG01256.hp1 NA19002.hp1 |
HG02896.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133437749 | + | 13 | 0.9834 | 0.9789 | 0.9776 | 0.0057 | donor | a0001 | HG01256.hp1 NA19002.hp1 |
NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133437897 | + | 13 | -0.9271 | -0.9255 | -0.9228 | 0.0043 | acceptor | a0001 | HG00673.hp2 HG01261.hp2 NA18955.hp1 |
HG01256.hp1 NA19002.hp1 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133438246 | + | 14 | 0.5382 | 0.5264 | 0.5048 | 0.0334 | donor | a0001 | HG02895.hp1 HG03041.hp2 |
NA19009.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133438366 | + | 14 | -0.3468 | -0.2973 | -0.2885 | 0.0583 | acceptor | a0001 | HG00673.hp2 HG01261.hp2 NA18955.hp1 |
NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133439366 | + | 15 | 0.9754 | 0.9666 | 0.9249 | 0.0505 | donor | a0001 | HG01192.hp2 | NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133439446 | + | 15 | -0.9078 | -0.8917 | -0.8285 | 0.0792 | acceptor | a0001 | HG02074.hp2 HG02809.hp2 HG04115.hp2 |
NA19240.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133440344 | + | 16 | 0.9922 | 0.9920 | 0.9894 | 0.0028 | donor | a0001 | HG01256.hp1 HG01258.hp2 HG02615.hp2 HG03579.hp1 NA19002.hp1 others(1): Show |
HG01884.hp1 HG03516.hp2 NA19240.hp2 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133440525 | + | 16 | -0.9989 | -0.9987 | -0.9986 | 0.0003 | acceptor | a0001 | HG02895.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03579.hp2 others(1): Show |
HG00673.hp1 HG02056.hp1 HG02135.hp2 NA19063.hp1 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133442399 | + | 17 | 0.9844 | 0.9784 | 0.9745 | 0.0099 | donor | a0001 | HG01109.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133442534 | + | 17 | -0.8500 | -0.8191 | -0.7985 | 0.0515 | acceptor | a0001 | HG02896.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133442614 | + | 18 | 0.9578 | 0.9337 | 0.9115 | 0.0463 | donor | a0001 | HG02896.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133442743 | + | 18 | -0.9329 | -0.9010 | -0.8865 | 0.0464 | acceptor | a0001 | HG01109.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133443376 | + | 19 | 0.9011 | 0.8195 | 0.7845 | 0.1166 | donor | a0001 | HG02896.hp1 | NA18974.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133443561 | + | 19 | -0.9513 | -0.9026 | -0.8793 | 0.0720 | acceptor | a0001 | HG01109.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133444863 | + | 20 | 0.8677 | 0.7969 | 0.7328 | 0.1349 | donor | a0001 | HG02896.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133445052 | + | 20 | -0.8962 | -0.8733 | -0.7981 | 0.0981 | acceptor | a0001 | HG02896.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133445699 | + | 21 | 0.8098 | 0.7409 | 0.7164 | 0.0934 | donor | a0001 | HG02896.hp1 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133445819 | + | 21 | -0.7523 | -0.7426 | -0.7315 | 0.0208 | acceptor | a0001 | NA18977.hp2 NA18979.hp2 NA20905.hp1 |
NA18990.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133448599 | + | 22 | 0.9874 | 0.9849 | 0.9844 | 0.0030 | donor | a0001 | HG04204.hp2 | HG00099.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133448728 | + | 22 | -0.9863 | -0.9857 | -0.9850 | 0.0013 | acceptor | a0001 | HG02572.hp2 | NA18948.hp1 NA18959.hp2 |
ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133449783 | + | 23 | 0.9334 | 0.9244 | 0.9218 | 0.0116 | donor | a0001 | HG01256.hp2 HG03041.hp2 NA18960.hp1 NA18977.hp1 NA19003.hp2 |
HG02559.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133449965 | + | 23 | -0.9898 | -0.9885 | -0.9865 | 0.0032 | acceptor | a0001 | HG01106.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133454415 | + | 24 | 0.9945 | 0.9942 | 0.9939 | 0.0006 | donor | a0001 | HG03831.hp2 | NA18975.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133454619 | + | 24 | -0.9992 | -0.9991 | -0.9991 | 0.0001 | acceptor | a0001 | NA18951.hp2 | HG03831.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133455285 | + | 25 | 0.8033 | 0.7823 | 0.7453 | 0.0580 | donor | a0001 | NA18975.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133455435 | + | 25 | -0.1330 | -0.1289 | -0.1133 | 0.0197 | acceptor | a0001 | NA18975.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133456069 | + | 26 | 0.9937 | 0.9936 | 0.9913 | 0.0024 | donor | a0001 | HG00140.hp2 HG00741.hp1 HG01109.hp2 HG01258.hp2 HG02015.hp2 others(24): Show |
NA18975.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133456215 | + | 26 | -0.9735 | -0.9697 | -0.9663 | 0.0072 | acceptor | a0001 | NA18975.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133456543 | + | 27 | 0.9865 | 0.9855 | 0.9847 | 0.0019 | donor | a0001 | NA18975.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133456719 | + | 27 | -0.9841 | -0.9834 | -0.9751 | 0.0090 | acceptor | a0001 | HG01106.hp2 | HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133457910 | + | 28 | 0.8214 | 0.8062 | 0.7957 | 0.0257 | donor | a0001 | NA18955.hp1 | HG01256.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133458094 | + | 28 | -0.8360 | -0.8179 | -0.7954 | 0.0406 | acceptor | a0001 | HG02280.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp2 |
HG01109.hp1 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 133458974 | + | 29 | 0.4787 | 0.4217 | 0.2221 | 0.2566 | donor | a0001 | NA18990.hp2 | NA19088.hp2 | ADAMTS13 | chr9 | 133417367 | 133464386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr9:133458632
|
c.3910-342A>G | Liver enzyme levels0.06 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Population-based genome-wide association studies r others(58): Show |
7,751 European ancestry individuals/1,005 European others(62): Show |
ADAMTS13 | ADAMTS13 | rs4962153-A | + | MODIFIER | chr9 | A | G |
|
chr9:133425943
|
c.420T>Cp.Ala140Ala | ADAMTS13 activity3.0 | a0001a0002a0003a0004a0009others(6): Show | a0001c0005a0001c0017a0001c0027a0001c0028a0001c0029others(23): Show | a0001c0005t0001a0001c0017t0002a0001c0027t0001a0001c0028t0001a0001c0029t0001others(23): Show | a0001c0005t0001g0257a0001c0005t0001g0258a0001c0005t0001g0260a0001c0005t0001g0261a0001c0005t0001g0263others(114): Show | HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00609.hp1 HG00639.hp2 others(128): Show |
Genetic variants in the ADAMTS13 and SUPT3H genes others(38): Show |
3,423 European ancestry individuals/2,025 European others(21): Show |
ADAMTS13 | ADAMTS13 | rs3118667-C | + | LOW | chr9 | T | C |
|
chr9:133447335
|
c.2732-1264A>G | ADAMTS13 levels7.1 | a0001a0002a0011a0019 | a0001c0011a0001c0044a0002c0002a0002c0006a0002c0039others(4): Show | a0001c0011t0001a0001c0044t0001a0002c0002t0001a0002c0006t0001a0002c0039t0001others(4): Show | a0001c0011t0001g0137a0001c0011t0001g0138a0001c0011t0001g0157a0001c0011t0001g0158a0001c0011t0001g0216others(59): Show | HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 others(69): Show |
Genetic variants in ADAMTS13 as well as smoking ar others(47): Show |
3,238 European ancestry individuals/ | ADAMTS13 | ADAMTS13 | rs28673647-G | + | MODIFIER | chr9 | A | G |
|
chr9:133435084
|
c.1308+1380G>C |
OTU97_163 (Bacteroides) prevalence0.4147 others(3): Show |
a0001a0003a0025a0030 | a0001c0005a0001c0027a0001c0028a0001c0034a0003c0003others(7): Show | a0001c0005t0001a0001c0027t0001a0001c0028t0001a0001c0034t0001a0003c0003t0001others(7): Show | a0001c0005t0001g0257a0001c0005t0001g0258a0001c0005t0001g0260a0001c0005t0001g0261a0001c0005t0001g0263others(26): Show | HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01081.hp2 HG01109.hp1 others(26): Show |
Genome-wide association study in 8,956 German indi others(73): Show |
8,956 German ancestry individuals/ | ADAMTS13 | rs3124770-? | + | MODIFIER | chr9 | G | C | |
|
chr9:133443675
|
c.2420+114C>G | Venous thromboembolism0.2788 | a0001a0002a0003a0004a0017others(2): Show | a0001c0001a0001c0010a0001c0011a0002c0006a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0006a0001c0011t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(25): Show | HG00140.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 others(29): Show |
Genomic and Transcriptomic Association Studies Ide others(62): Show |
29,435 European ancestry cases, 157,769 European a others(17): Show |
NR | ADAMTS13 | rs28446901-? | + | MODIFIER | chr9 | C | G |
|
chr9:133458632
|
c.3910-342A>G | Blood protein levels0.4346 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common Genetic Polymorphisms Influence Blood Bioma others(26): Show |
1,340 European ancestry individuals/ | NR | ADAMTS13 | rs4962153-? | + | MODIFIER | chr9 | A | G |
|
chr9:133458632
|
c.3910-342A>G | Blood protein levels0.6212 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common Genetic Polymorphisms Influence Blood Bioma others(26): Show |
1,340 European ancestry individuals/ | NR | ADAMTS13 | rs4962153-? | + | MODIFIER | chr9 | A | G |
|
chr9:133458632
|
c.3910-342A>G | Blood protein levels0.2842 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common Genetic Polymorphisms Influence Blood Bioma others(26): Show |
1,340 European ancestry individuals/ | NR | ADAMTS13 | rs4962153-? | + | MODIFIER | chr9 | A | G |
|
chr9:133458632
|
c.3910-342A>G | Blood protein levels0.5582 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common Genetic Polymorphisms Influence Blood Bioma others(26): Show |
1,340 European ancestry individuals/ | NR | ADAMTS13 | rs4962153-? | + | MODIFIER | chr9 | A | G |
|
chr9:133452645
|
c.3045-1770C>T | Total cholesterol levels0.0573 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | HG00140.hp2 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,508 European ancestry individuals, 6,014 Afric others(64): Show |
NR | ADAMTS13 | rs117164445-T | + | MODIFIER | chr9 | C | T |
|
chr9:133458723
|
c.3910-251G>C | Glycated hemoglobin levels0.0202 | a0001a0002a0003a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0010a0001c0017a0001c0028others(17): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001a0001c0017t0002a0001c0028t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0016others(143): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
327,177 European ancestry individuals, 4,847 Afric others(64): Show |
NR | ADAMTS13 | rs4962050-C | + | MODIFIER | chr9 | G | C |
|
chr9:133458723
|
c.3910-251G>C | Total cholesterol levels0.0161 | a0001a0002a0003a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0010a0001c0017a0001c0028others(17): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001a0001c0017t0002a0001c0028t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0016others(143): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,508 European ancestry individuals, 6,014 Afric others(64): Show |
NR | ADAMTS13 | rs4962050-C | + | MODIFIER | chr9 | G | C |
|
chr9:133443675
|
c.2420+114C>G | Circulating fibroblast growth factor 23 levelsothers(10): Show | a0001a0002a0003a0004a0017others(2): Show | a0001c0001a0001c0010a0001c0011a0002c0006a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0006a0001c0011t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(25): Show | HG00140.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 others(29): Show |
Genetic Variants Associated with Circulating Fibro others(23): Show |
16,624 European ancestry individuals/4,443 African others(21): Show |
ADAMTS13 | ADAMTS13 | rs28446901-C | + | MODIFIER | chr9 | C | G |
|
chr9:133463535
|
c.*4355T>C | Breast cancer0.0437 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(260): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(304): Show |
Association analysis identifies 65 new breast canc others(13): Show |
76,192 European ancestry cases, 63,082 European an others(152): Show |
NR | CACFD1 | rs3124765-C | + | MODIFIER | chr9 | T | C |
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chr9:133458632
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c.3910-342A>G | vWF levels in ischaemic stroke and hyperhomocysteinaemiaothers(16): Show | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Genetic Drivers of von Willebrand Factor Levels in others(78): Show |
1,931 European and unknown ancestry individuals/ | ADAMTS13 | ADAMTS13 | rs4962153-? | + | MODIFIER | chr9 | A | G |
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chr9:133458632
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c.3910-342A>G |
Gut microbiota (functional units)4.65725 others(2): Show |
a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
The effect of host genetics on the gut microbiome. |
984 European ancestry individuals/530 European anc others(17): Show |
ADAMTS13, CACFD1, SLC2A6 | ADAMTS13 | rs4962153-A | + | MODIFIER | chr9 | A | G |
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chr9:133452645
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c.3045-1770C>T | Serum alkaline phosphatase levels0.2212 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | HG00140.hp2 |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,535 European ancestry individuals, 6,019 Afric others(64): Show |
NR | ADAMTS13 | rs117164445-T | + | MODIFIER | chr9 | C | T |
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chr9:133458723
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c.3910-251G>C | Serum alkaline phosphatase levels0.0738 | a0001a0002a0003a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0010a0001c0017a0001c0028others(17): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001a0001c0017t0002a0001c0028t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0016others(143): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
342,535 European ancestry individuals, 6,019 Afric others(64): Show |
NR | ADAMTS13 | rs4962050-C | + | MODIFIER | chr9 | G | C |
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chr9:133458723
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c.3910-251G>C | Low density lipoprotein cholesterol levelsothers(8): Show | a0001a0002a0003a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0010a0001c0017a0001c0028others(17): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001a0001c0017t0002a0001c0028t0001others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0016others(143): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 others(170): Show |
Genetics of 35 blood and urine biomarkers in the U others(10): Show |
341,875 European ancestry individuals, 6,003 Afric others(64): Show |
NR | ADAMTS13 | rs4962050-C | + | MODIFIER | chr9 | G | C |
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chr9:133463535
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c.*4355T>C | Body size (confirmatory factor analysis Factor 21)others(10): Show | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(260): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(304): Show |
Principled distillation of UK Biobank phenotype da others(51): Show |
329,172 European ancestry individuals/ | CACFD1 | rs3124765-? | + | MODIFIER | chr9 | T | C | |
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chr9:133432759
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c.1092+67G>A | A disintegrin and metalloproteinase with thrombospondin motifs 13 levelsothers(33): Show | a0001a0018a0019 | a0001c0010a0018c0024a0019c0025 | a0001c0010t0001a0018c0024t0001a0019c0025t0001 | a0001c0010t0001g0308a0018c0024t0001g0023a0019c0025t0001g0125a0019c0025t0001g0126 | HG01069.hp2 HG01071.hp1 HG02145.hp1 HG03491.hp1 HG03492.hp2 |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ADAMTS13 | rs35516997-A | + | MODIFIER | chr9 | G | A | |
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chr9:133425034
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c.331-495G>T | LDL cholesterol levels2.24 | a0001 | a0001c0001a0001c0047 | a0001c0001t0001a0001c0047t0001 | a0001c0001t0001g0002a0001c0001t0001g0252a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0255others(3): Show | NA18947.hp1 NA18962.hp1 NA18974.hp2 NA18975.hp2 NA18988.hp2 others(8): Show |
Dyslipidaemia-Genotype Interactions with Nutrient others(42): Show |
58,701 Korean ancestry individuals/ | ADAMTS13 | rs151195287-TACAA | + | MODIFIER | chr9 | G | T | |
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chr9:133425034
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c.331-490_331-487delACAA | LDL cholesterol levels2.24 | a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0251a0002c0002t0001g0245a0007c0009t0001g0246a0007c0009t0001g0247a0007c0009t0001g0248others(2): Show | HG01074.hp1 HG01099.hp1 HG01496.hp2 HG01981.hp2 HG01993.hp2 others(2): Show |
Dyslipidaemia-Genotype Interactions with Nutrient others(42): Show |
58,701 Korean ancestry individuals/ | ADAMTS13 | rs151195287-TACAA | + | MODIFIER | chr9 | GACAA | G | |
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chr9:133425034
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c.331-495G>T | Total cholesterol levels2.05 | a0001 | a0001c0001a0001c0047 | a0001c0001t0001a0001c0047t0001 | a0001c0001t0001g0002a0001c0001t0001g0252a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0255others(3): Show | NA18947.hp1 NA18962.hp1 NA18974.hp2 NA18975.hp2 NA18988.hp2 others(8): Show |
Dyslipidaemia-Genotype Interactions with Nutrient others(42): Show |
58,701 Korean ancestry individuals/ | ADAMTS13 | rs151195287-TACAA | + | MODIFIER | chr9 | G | T | |
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chr9:133425034
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c.331-490_331-487delACAA | Total cholesterol levels2.05 | a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0251a0002c0002t0001g0245a0007c0009t0001g0246a0007c0009t0001g0247a0007c0009t0001g0248others(2): Show | HG01074.hp1 HG01099.hp1 HG01496.hp2 HG01981.hp2 HG01993.hp2 others(2): Show |
Dyslipidaemia-Genotype Interactions with Nutrient others(42): Show |
58,701 Korean ancestry individuals/ | ADAMTS13 | rs151195287-TACAA | + | MODIFIER | chr9 | GACAA | G | |
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chr9:133446953
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c.2731+1134G>T | ICAM2 protein levels0.4632 | a0001a0002a0019 | a0001c0011a0002c0002a0002c0006a0002c0039a0019c0025 | a0001c0011t0001a0002c0002t0001a0002c0006t0001a0002c0039t0001a0019c0025t0001 | a0001c0011t0001g0216a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0013a0002c0002t0001g0015others(15): Show | HG00642.hp1 HG01069.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 others(22): Show |
Genetic determinants of plasma protein levels in t others(23): Show |
496 European ancestry individuals/ | ADAMTS13 | rs28479961-T | + | MODIFIER | chr9 | G | T | |
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chr9:133451246
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c.3044+1281C>A | vWF levels | a0001a0002a0011a0019 | a0001c0011a0001c0044a0002c0002a0002c0006a0002c0039others(4): Show | a0001c0011t0001a0001c0044t0001a0002c0002t0001a0002c0006t0001a0002c0039t0001others(4): Show | a0001c0011t0001g0137a0001c0011t0001g0138a0001c0011t0001g0157a0001c0011t0001g0158a0001c0011t0001g0216others(58): Show | HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 others(68): Show |
Genome-Wide Association Trans-Ethnic Meta-Analyses others(106): Show |
42,379 European ancestry individuals, 3,700 Africa others(49): Show |
ABO | ADAMTS13 | rs28680325-? | + | MODIFIER | chr9 | C | A |
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chr9:133451246
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c.3044+1281C>A | vWF levels | a0001a0002a0011a0019 | a0001c0011a0001c0044a0002c0002a0002c0006a0002c0039others(4): Show | a0001c0011t0001a0001c0044t0001a0002c0002t0001a0002c0006t0001a0002c0039t0001others(4): Show | a0001c0011t0001g0137a0001c0011t0001g0138a0001c0011t0001g0157a0001c0011t0001g0158a0001c0011t0001g0216others(58): Show | HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 others(68): Show |
Genome-Wide Association Trans-Ethnic Meta-Analyses others(106): Show |
42,379 European ancestry individuals, 3,700 Africa others(49): Show |
ABO | ADAMTS13 | rs28680325-? | + | MODIFIER | chr9 | C | A |
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chr9:133429376
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c.825-563C>T | Human papillomavirus seropositivity (HPV18 L1)others(13): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | HG01993.hp2 |
Genome-Wide Association Analyses of HPV16 and HPV1 others(66): Show |
191 European ancestry cases, 7,733 European ancest others(12): Show |
ADAMTS13 | rs181843005-T | + | MODIFIER | chr9 | C | T | |
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chr9:133443675
|
c.2420+114C>G | Multi-trait sex score | a0001a0002a0003a0004a0017others(2): Show | a0001c0001a0001c0010a0001c0011a0002c0006a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0006a0001c0011t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(25): Show | HG00140.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 others(29): Show |
The genetics of a "femaleness/maleness" score in c others(40): Show |
161,906 European ancestry females/ | ADAMTS13 | rs28446901-? | + | MODIFIER | chr9 | C | G | |
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chr9:133443675
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c.2420+114C>G | Tyrosine-protein kinase receptor Tie-1, soluble levelsothers(22): Show | a0001a0002a0003a0004a0017others(2): Show | a0001c0001a0001c0010a0001c0011a0002c0006a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0010t0006a0001c0011t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(25): Show | HG00140.hp2 HG00639.hp1 HG00741.hp1 HG01081.hp2 HG01109.hp2 others(29): Show |
Differences and commonalities in the genetic archi others(76): Show |
2,935 Qatari ancestry individuals/ | ADAMTS13 | rs28446901-G | + | MODIFIER | chr9 | C | G | |
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chr9:133458632
|
c.3910-342A>G | Hemoglobin concentration0.05488 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
52,141 European ancestry females/89,584 European a others(15): Show |
ADAMTS13 | rs4962153-A | + | MODIFIER | chr9 | A | G | |
|
chr9:133458632
|
c.3910-342A>G | Hemoglobin concentration0.04886 | a0001a0002a0003a0004a0005others(22): Show | a0001c0001a0001c0005a0001c0010a0001c0011a0001c0017others(46): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0001a0001c0010t0001a0001c0011t0001others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(257): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 others(300): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
46,904 European ancestry males/80,822 European anc others(11): Show |
ADAMTS13 | rs4962153-A | + | MODIFIER | chr9 | A | G | |
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chr9:133449556
|
c.2862-227C>G |
Lymphocyte percentage of white cells0.01 others(7): Show |
a0001a0002a0011a0019a0022 | a0001c0011a0001c0029a0001c0044a0002c0002a0002c0006others(5): Show | a0001c0011t0001a0001c0029t0001a0001c0044t0001a0002c0002t0001a0002c0006t0001others(5): Show | a0001c0011t0001g0137a0001c0011t0001g0138a0001c0011t0001g0157a0001c0011t0001g0158a0001c0011t0001g0216others(60): Show | HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 others(70): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | ADAMTS13 | ADAMTS13 | rs2301613-G | + | MODIFIER | chr9 | C | G |
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chr9:133443421
|
c.2280T>Cp.Gly760Gly | CBLIF protein levels0.03727799 | a0001a0002a0003a0004a0008others(15): Show | a0001c0005a0001c0010a0001c0017a0001c0027a0001c0028others(36): Show | a0001c0005t0001a0001c0010t0001a0001c0010t0006a0001c0017t0002a0001c0027t0001others(37): Show | a0001c0005t0001g0257a0001c0005t0001g0258a0001c0005t0001g0260a0001c0005t0001g0261a0001c0005t0001g0263others(139): Show | HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 others(155): Show |
A scalable variational inference approach for incr others(36): Show |
47,745 European ancestry individuals/ | ADAMTS13 | rs3124767-T | + | LOW | chr9 | T | C |