Entering edit mode
4.3 years ago
prasundutta87
▴
670
Hi,
Can a rare variant (point mutation) be called a rare SNP (single nucleotide polymorphism) or instead should be called a rare SNV (single nucleotide variant)? This is because the word 'SNP' refers to single base variations that have risen to a frequency greater than 1% of the population. Just to add, I am referring to rare variants as single point mutation with 0 < MAF < 0.05 where MAF is minor allele frequency.
There is no consensus. I provided some thoughts here: A: Genotyping, genotype calling or SNP calling?