{{Rsnum
|rsid=2238472
|Gene=ABCC6
|Chromosome=16
|position=16157742
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1938
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCC6
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 8.0 | 31.0 | 61.1
| HCB | 0.7 | 19.0 | 80.3
| JPT | 4.4 | 27.4 | 68.1
| YRI | 0.7 | 14.3 | 85.0
| ASW | 1.8 | 19.3 | 78.9
| CHB | 0.7 | 19.0 | 80.3
| CHD | 0.9 | 25.0 | 74.1
| GIH | 3.0 | 34.7 | 62.4
| LWK | 0.0 | 12.7 | 87.3
| MEX | 6.9 | 31.0 | 62.1
| MKK | 0.6 | 7.7 | 91.7
| TSI | 7.8 | 31.4 | 60.8
| HapMapRevision=28
}}{{omim
|desc=PSEUDOXANTHOMA ELASTICUM
|id=603234
|rsnum=2238472
|variant=0011
}}

{{PharmGKB
|RSID=rs2238472
|Name_s=ABCC6:rs2238472 A>G; NM_001171.5:c.3803G>A; NP_001162.4:p.Arg1268Gln
|Gene_s=ABCC6
|Feature=Exon/NonSyn
|Evidence=PubMed ID:20038957
|Annotation=Risk or phenotype-associated allele: G Phenotype: The ABCC6 rs2238472 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.006 Type of association: CO; TOX
|Drugs=docetaxel; thalidomide
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA165111539
}}

{{ClinVar
|rsid=2238472
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=16251599
|CHROM=16
|GMAF=0.1937
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x05017800000015051f110101
|GENEINFO=ABCC6:368
|GENE_NAME=ABCC6
|GENE_ID=368
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.16251599C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603234.0011
|CLNSIG=5
|CLNCUI=C0033847
|CLNDBN=Pseudoxanthoma elasticum
|Disease=Pseudoxanthoma elasticum
|CLNACC=RCV000006948.1
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8062; 0.1938
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1113:C0033847:264800:758:252246005
|COMMON=1
}}

{{PMID Auto
|PMID=11536079
|Title=A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
|OA=1
}}

{{GET Evidence
|gene=ABCC6
|aa_change=Arg1268Gln
|aa_change_short=R1268Q
|impact=pharmacogenetic
|qualified_impact=Low clinical importance, Uncertain pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2238472
|overall_frequency_n=2355
|overall_frequency_d=10758
|overall_frequency=0.218907
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=17
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=1
|qualityscore_treatability=0
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=0
|summary_short=This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}