Variant (rsID / SNP)
rs3732379
rs3732379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CX3CR1. Location: chromosome 3, position 39,307,256. Clinical significance in the table: no interpretation for the single variant.
Reference-table entries
- Clinical significance (as recorded)
- no interpretation for the single variant
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:39307256
- Cytoband
- 3p22.2
- HGVS
- NM_001337.4(CX3CR1):c.745G>A (p.Val249Ile)
- Allele change
- Missense_V249I
Associated conditions / phenotypes
Macular Degeneration, Age-Related, 12|Macular Degeneration, Age-Related, 1|Eye Disease|Developmental Dysplasia of the Hip 1|End Stage Renal Disease|Atrial Standstill 1|Dilated Cardiomyopathy|Alzheimer Disease|Atherosclerosis Susceptibility|Lateral Sclerosis|Amyotrophic Lateral Sclerosis 1|Arteriosclerosis|Cerebrovascular Disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.