Variant (rsID / SNP)

rs1057149

rs1057149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TAP1. Location: chromosome 6, position 32,814,942. Clinical significance in the table: Benign.

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Reference-table entries

TAP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:32814942
Cytoband: 6p21.32
HGVS: NM_000593.6(TAP1):c.1943G>A (p.Arg648Gln)
Allele change: Missense_R708Q

Associated conditions / phenotypes

MHC class I deficiency

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.