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Variant (rsID / SNP)

rs11572080

CYP2C8

rs11572080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP2C8. Location: chromosome 10, position 96,827,030. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

CYP2C8Other
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
10:96827030
Cytoband
10q23.33
HGVS
NM_000770.3(CYP2C8):c.416G>A (p.Arg139Lys)
Allele change
Missense_R69K

Associated conditions / phenotypes

Macular Degeneration, Age-Related, 1|Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency|Peripheral Nervous System Disease|Neuropathy|Myeloid Leukemia|Helicobacter Pylori Infection|Leukemia|Myocardial Infarction|Gastrointestinal Stromal Tumor|Leukemia, Chronic Myeloid|Thrombocytopenic Purpura, Autoimmune|Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets|Peptic Ulcer Disease|Purpura

Public references

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