Variant (rsID / SNP)

rs147649016

rs147649016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,847,310. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCB11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:169847310
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.908+1G>A
Allele change: Silent

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.