Variant (rsID / SNP)

rs104894518

rs104894518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD3B7. Location: chromosome 16, position 30,997,933. Clinical significance in the table: Pathogenic.

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Reference-table entries

HSD3B7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:30997933
Cytoband: 16p11.2
HGVS: NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)
Allele change: Missense_E147K

Associated conditions / phenotypes

Congenital bile acid synthesis defect 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.