Genetic variants in myostatin and its receptors promote elite athlete status

BMC Genomics

Table 1 Characteristics of the selected polymorphic sites

Gene	rsID	locus	alleles	CADD	gnomAD MAF	Polish genomes MAF	Predicted consequence
MSTN	rs11333758	chr2: 190,062,133	AAA>–AA	12.9	0.2	0.22	Intron variant
ACVR2A	rs3764955	chr2: 147,917,228	G > C	4.646	0.31	0.32	Intron variant

CADD - Combined Annotation-Dependent Depletion scores - these scores are phred-scaled values that indicate deleteriousness. CADD 10 means that the variant is within the top 10% of most damaging substitutions in the human genome [15]; MAF - Minor Allele Frequency; gnomAD - genome Aggregation Database

ISSN: 1471-2164