Variant (rsID / SNP)

rs2395029

rs2395029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLA-B, HCP5. Location: chromosome 6, position 31,431,780. Clinical significance in the table: Pathogenic; risk factor.

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Reference-table entries

HLA-BPathogenic

Clinical significance (as recorded): Pathogenic; risk factor
Variant type: single nucleotide variant
Chromosome / position: 6:31431780
Cytoband: 6p21.33
HGVS: HLA-B*57:01
Allele change: Silent

Associated conditions / phenotypes

Drug-induced liver injury due to flucloxacillin|Abacavir hypersensitivity

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.