{{Rsnum
|rsid=11555566
|Gene=ADA
|Chromosome=20
|position=44626579
|Orientation=plus
|GMAF=0.0427
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ADA
}}{{omim
|id=608958
|rsnum=11555566
|variant=0001
}}

{{ClinVar
|rsid=11555566
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=43255220
|CHROM=20
|GMAF=0.043
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050360000000150516110100
|GENEINFO=ADA:100
|GENE_NAME=ADA
|GENE_ID=100
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.43255220T>C
|CLNORIGIN=0
|Tags=RV;PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9573; 0.0427
|CLNACC=RCV000002031.1
|CLNDBN=Reclassified - variant of unknown significance
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608958.0001
|COMMON=1
|Disease=Reclassified - variant of unknown significance
}}

{{GET Evidence
|gene=ADA
|aa_change=Lys80Arg
|aa_change_short=K80R
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs11555566
|overall_frequency_n=684
|overall_frequency_d=10758
|overall_frequency=0.0635806
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-3
|autoscore=4
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.
}}

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