Variant (rsID / SNP)

rs121918442

rs121918442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,035,609. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:87035609
Cytoband: 7q21.12
HGVS: NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
Allele change: Missense_P1168S

Associated conditions / phenotypes

Low phospholipid associated cholelithiasis

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.