{{Rsnum
|rsid=7560008
|Gene=ABCA12
|Chromosome=2
|position=215011442
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=ABCA12
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=7560008
|allele=T
|frequency=1
|uid=1103658361668
|type=homozygous_SNP
|hugo=ABCA12
|ensembl gene=ENSG00000144452
|ensembl transcript=ENST00000272895
|sift=TOLERATED
|disease=Defects in ABCA12 are the cause of lamellar ichthyosis type 2 (LI2) (MIM:601277); also known as ichthyosis congenita IIB (ICR2B). LI2 is a rare autosomal recessive skin disorder.
}}

{{GET Evidence
|gene=ABCA12
|aa_change=Ser777Thr
|aa_change_short=S777T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7560008
|overall_frequency_n=10730
|overall_frequency_d=10754
|overall_frequency=0.997768
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}