Variant (rsID / SNP)

rs9938550

rs9938550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSD3B7. Location: chromosome 16, position 30,999,142. Clinical significance in the table: Benign.

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Reference-table entries

HSD3B7Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:30999142
Cytoband: 16p11.2
HGVS: NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)
Allele change: Synonymous_Q195Q

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.