Variant (rsID / SNP)

rs11568373

rs11568373 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,801,403. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCB11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:169801403
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.2412A>G (p.Ala804=)
Allele change: Synonymous_A804A

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2

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.