{{Rsnum
|rsid=2301612
|Gene=ADAMTS13
|Chromosome=9
|position=133436862
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.275
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ADAMTS13
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 44.6 | 36.9 | 18.5
| HCB | 57.8 | 40.0 | 2.2
| JPT | 63.6 | 31.8 | 4.5
| YRI | 93.7 | 6.3 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 57.8 | 40.0 | 2.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{omim
|desc=THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
|id=604134
|rsnum=2301612
|variant=0015
}}

{{ClinVar
|rsid=2301612
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=136301982
|CHROM=9
|GMAF=0.2747
|dbSNPBuildID=100
|SSR=0
|SAO=0
|VP=0x050360000000150517110101
|GENEINFO=ADAMTS13:11093
|GENE_NAME=ADAMTS13
|GENE_ID=11093
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.136301982C>G
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604134.0015
|CLNSIG=5
|CLNCUI=C1268935; C1268935
|CLNDBN=Upshaw-Schulman syndrome
|Disease=Upshaw-Schulman syndrome
|CLNACC=RCV000006169.1
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.725; 0.275
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1268935:274150:54057:373420004
|COMMON=1
}}

{{GET Evidence
|gene=ADAMTS13
|aa_change=Gln448Glu
|aa_change_short=Q448E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2301612
|overall_frequency_n=3178
|overall_frequency_d=10704
|overall_frequency=0.296898
|n_genomes=14
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|n_web_uneval=10
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}