{{Rsnum
|rsid=9938550
|Gene=HSD3B7
|Chromosome=16
|position=30987821
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3765
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HSD3B7
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 11.8 | 49.1 | 39.1
| HCB | 0.0 | 9.0 | 91.0
| JPT | 0.9 | 22.2 | 76.9
| YRI | 64.8 | 33.1 | 2.1
| ASW | 44.6 | 50.0 | 5.4
| CHB | 0.0 | 9.0 | 91.0
| CHD | 0.9 | 17.6 | 81.5
| GIH | 32.7 | 62.4 | 5.0
| LWK | 55.5 | 35.5 | 9.1
| MEX | 10.7 | 55.4 | 33.9
| MKK | 43.6 | 46.2 | 10.3
| TSI | 11.9 | 45.5 | 42.6
| HapMapRevision=28
}}{{Venter SNP
|rsid=9938550
|allele=G
|frequency=
|uid=1103645461614
|type=homozygous_SNP
|hugo=HSD3B7
|ensembl gene=ENSG00000099377
|ensembl transcript=ENST00000297679
|sift=TOLERATED
|disease=Defects in HSD3B7 are the cause of progressive familial intrahepatic cholestasis type 4 (PFIC4) (MIM:607765); also known as neonatal progressive intrahepatic cholestasis. PFIC4 is an autosomal recessive form of severe cholestatic liver disease. It presents in infancy with intermittent jaundice and cholestasis and progresses to end-stage liver disease and death in childhood.
}}

{{GET Evidence
|gene=HSD3B7
|aa_change=Thr250Ala
|aa_change_short=T250A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9938550
|overall_frequency_n=5549
|overall_frequency_d=10754
|overall_frequency=0.515994
|n_genomes=39
|n_genomes_annotated=0
|n_haplomes=64
|n_articles=0
|n_articles_annotated=0
|nblosum100=1
|autoscore=0
|webscore=N
}}

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