Polymorphism profiling of nine high altitude relevant candidate gene loci in acclimatized sojourners and adapted natives

Table 5 Ensemble Variant Effect Predictor (VEP) result

Uploaded variation	Location	Allele	Consequence	Impact	Symbol	Gene	Feature type	Feature	Biotype	Exon	Intron	cDNA position	CDS position	Protein position	Amino acids	Codons	SIFT	PolyPhen	GMAF	Clinical significance
rs2071942	6:12294760-12294760	A	Intron_variant	MODIFIER	EDN1	ENSG00000 78401	Transcript	ENST00000 379375	Protein_coding	-	4	-	-	-	-	-	-	-	A: 0.2558	-
rs2071942	6:12294760-12294760	A	Regulatory_region_variant	MODIFIER	-	-	Regulatory feature	ENSR00001 211220	Promoter_flanking_region	-	-	-	-	-	-	-	-	-	A: 0.2558
rs1042714	5:148826910-148826910	C	Missense_variant	MODERATE	ADRB2	ENSG00000169252	Transcript	ENST00000305988	Protein_coding	1	-	1666	79	27	E/Q	GAA/CCA	tolerated (0.47)	benign (0.008)	G:0.2043	risk_factor
rs1042714	5:148826910-148826910	C	Regulatory_region_variant	MODIFIER	-	-	Regulatory feature	ENSR00001293358	Promoter	-	-	-	-	-	-	-	-	-	G:0.2043	risk_factor

ISSN: 2730-6844