{{Rsnum
|rsid = 222581
|Gene = ATP8B1
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=18
|position=57650444
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ATP8B1,RP11-35G9.3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;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 | 0.7 | 99.3
| ASW | 0.0 | 3.5 | 96.5
| 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=222581
|allele=T
|frequency=1
|uid=1103645208686
|type=homozygous_SNP
|hugo=ATP8B1
|ensembl gene=ENSG00000081923
|ensembl transcript=ENST00000283684
|sift=TOLERATED
|disease=Defects in ATP8B1 may be associated with recurrent intrahepatic cholestasis of pregnancy (RICP) (MIM:147480); also known as pregnancy-related cholestasis. RICP is characterized by generalized itching, with or without jaundice, absence of biliary colic, absence of jaundice or pruritus between pregnancies, and absence of chronic liver disease. Appears during pregnancy (primarily in the third trimester), and disappears shortly postpartum. May be a female-limited autosomal dominant inheritance.
}}

{{GET Evidence
|gene=ATP8B1
|aa_change=Ala1152Thr
|aa_change_short=A1152T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs222581
|overall_frequency_n=10744
|overall_frequency_d=10758
|overall_frequency=0.998699
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

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