{{Rsnum
|rsid=1800576
|Gene=THBD
|Chromosome=20
|position=23049378
|Orientation=plus
|GMAF=0.005969
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=THBD
}}{{omim
|id=188040
|rsnum=1800576
|variant=0005
}}

{{ClinVar
|rsid=1800576
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=23030015
|CHROM=20
|GMAF=0.006
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050168000000000016110100
|GENEINFO=THBD:7056
|GENE_NAME=THBD
|GENE_ID=7056
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.23030015C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=188040.0005
|CLNSIG=255
|CLNCUI=C2752036
|CLNDBN=Atypical hemolytic-uremic syndrome 6
|Disease=Atypical hemolytic-uremic syndrome 6
|CLNACC=RCV000013555.1
|Tags=RV;PM;PMC;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.994; 0.005969
|CLNDSDB=GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1367:C2752036:612926
|COMMON=1
}}

{{PMID Auto
|PMID=17677000
|Title=Combined effects of thrombosis pathway gene variants predict cardiovascular events.
|OA=1
}}

{{GET Evidence
|gene=THBD
|aa_change=Ala43Thr
|aa_change_short=A43T
|impact=pathogenic
|qualified_impact=High clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1800576
|overall_frequency_n=40
|overall_frequency_d=10428
|overall_frequency=0.00383583
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=1
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.001
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=4
|webscore=N
|n_web_uneval=3
|variant_evidence=2
|clinical_importance=0
|summary_short=Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.
}}

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