{{Rsnum
|rsid=11575933
|Gene=ADAMTS13
|Chromosome=9
|position=133436943
|Orientation=plus
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ADAMTS13
}}{{omim
|id=604134
|rsnum=11575933
|variant=0016
}}{{ClinVar
|rsid=11575933
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=136302063
|CHROM=9
|GMAF=0.0092
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050360000000040116110100
|GENEINFO=ADAMTS13:11093
|GENE_NAME=ADAMTS13
|GENE_ID=11093
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.136302063C>T
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604134.0016
|CLNSIG=5
|CLNCUI=C1268935; C1268935
|CLNDBN=Upshaw-Schulman syndrome
|Disease=Upshaw-Schulman syndrome
|CLNACC=RCV000006170.1
|Tags=PM;S3D;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9908; 0.009183
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1268935:274150:54057:373420004
|CLNORIGIN=1
|COMMON=1
}}{{GET Evidence
|gene=ADAMTS13
|aa_change=Pro475Ser
|aa_change_short=P475S
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11575933
|overall_frequency_n=7
|overall_frequency_d=10734
|overall_frequency=0.000652133
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=4
|webscore=N
|n_web_uneval=10
}}