{{Rsnum
|rsid=34719006
|Gene=ATP8B1
|Chromosome=18
|position=57706561
|Orientation=plus
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ATP8B1
}}{{omim
|id=602397
|rsnum=34719006
|variant=0010
}}{{ClinVar
|rsid=34719006
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=55373793
|CHROM=18
|GMAF=0.0037
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050170000000050416110100
|GENEINFO=ATP8B1:5205
|GENE_NAME=ATP8B1
|GENE_ID=5205
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.55373793C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602397.0010
|CLNSIG=5
|CLNCUI=C0268318
|CLNDBN=Cholestasis of pregnancy
|Disease=Cholestasis of pregnancy
|CLNACC=RCV000007694.1
|Tags=RV;PM;TPA;SLO;VLD;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C0268318:147480:69665:235888006
|COMMON=1
}}{{GET Evidence
|gene=ATP8B1
|aa_change=Asp70Asn
|aa_change_short=D70N
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34719006
|overall_frequency_n=22
|overall_frequency_d=10754
|overall_frequency=0.00204575
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.976
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=6
|webscore=N
|n_web_uneval=3
}}