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Variant (rsID / SNP)

rs5030868

G6PD

rs5030868 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to G6PD. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

G6PDPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Cytoband
Xq28
HGVS
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
Allele change
Missense_S188F

Associated conditions / phenotypes

G6PD SASSARI|G6PD MEDITERRANEAN|G6PD CAGLIARI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|Susceptibility to angioedema induced by ACE inhibitors|G6PD deficient hemolytic anemia|Hemolytic anemia, G6PD deficient (favism)|Malaria, susceptibility to|Decreased glucose-6-phosphate dehydrogenase level in blood

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.