{{Rsnum
|rsid=726070
|Gene=ABCA12
|Chromosome=2
|position=214948607
|Orientation=plus
|GMAF=0.01974
|Gene_s=ABCA12
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 7.1 | 92.9
| HCB | 0.0 | 3.7 | 96.3
| JPT | 0.0 | 3.5 | 96.5
| YRI | 0.0 | 1.4 | 98.6
| ASW | 0.0 | 3.6 | 96.4
| CHB | 0.0 | 3.7 | 96.3
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 4.0 | 96.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 8.6 | 91.4
| MKK | 0.0 | 0.6 | 99.4
| TSI | 0.0 | 4.9 | 95.1
| HapMapRevision=28
}}{{omim
|id=607800
|variant=0008
|rsnum=726070
}}

{{ClinVar
|rsid=726070
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=215813331
|CHROM=2
|GMAF=0.0197
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050360000000150517110101
|GENEINFO=ABCA12:26154
|GENE_NAME=ABCA12
|GENE_ID=26154
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.215813331C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607800.0008
|CLNSIG=5
|CLNCUI=C0239849
|CLNDBN=Autosomal recessive congenital ichthyosis 4B
|Disease=Autosomal recessive congenital ichthyosis 4B
|CLNACC=RCV000002995.1
|Tags=RV;PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9803; 0.01974
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1420:C0239849:242500:457
|COMMON=1
}}

{{GET Evidence
|gene=ABCA12
|aa_change=Asp2365Asn
|aa_change_short=D2365N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs726070
|overall_frequency_n=207
|overall_frequency_d=10758
|overall_frequency=0.0192415
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.86
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|webscore=N
}}

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