Variant (rsID / SNP)

rs28937579

rs28937579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAAT. Location: chromosome 9, position 104,133,461. Clinical significance in the table: Pathogenic.

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Reference-table entries

BAATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:104133461
Cytoband: 9q31.1
HGVS: NM_001701.4(BAAT):c.226A>G (p.Met76Val)
Allele change: Missense_M76V

Associated conditions / phenotypes

Bile acid conjugation 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.