Variant (rsID / SNP)
rs1751034
rs1751034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC4. Location: chromosome 13, position 95,714,976. Clinical significance in the table: drug_response.
Reference-table entries
ABCC4Drug response
- Clinical significance (as recorded)
- drug_response
- Variant type
- synonymous_variant
- Chromosome / position
- 13:95714976
- HGVS
- NM_005845.5,c.3348G>A,p.Lys1116Lys
- Allele change
- Synonymous_K1116K
Associated conditions / phenotypes
Kawasaki Disease|Vasculitis|Proteinuria, Chronic Benign|Bone Disease|Pulmonary Hypertension, Primary, 1|Pulmonary Hypertension|Toxic Shock Syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.