Variant (rsID / SNP)
rs8190996
rs8190996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSR. Location: chromosome 8, position 30,554,006. Clinical significance in the table: Benign.
Reference-table entries
GSRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:30554006
- Cytoband
- 8p12
- HGVS
- NM_000637.5(GSR):c.696-10C>T
- Allele change
- Silent
Associated conditions / phenotypes
Hemolytic anemia due to glutathione reductase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.