FineMAV: prioritizing candidate genetic variants driving local adaptations in human populations

Table 1 List of “gold standard” selected variants used for FineMAV calibration and validation

Gene	SNP	Population	Function
ACKR1 ^a	rs2814778	AFR	Malaria resistance [115,116,117,118]
SLC39A4	rs1871534	AFR	Zinc level [119]
ABCC11	rs17822931	EAS	Earwax and sweat type [120, 121]
EDAR	rs3827760	EAS	Hair shape and thickness [33, 122]
HERC2	rs12913832	EUR	Eye pigmentation [123,124,125]
MCM6	rs4988235	EUR	Lactose tolerance [35, 36]
SLC24A5	rs1426654	EUR	Skin pigmentation [34, 126]
SLC45A2	rs16891982	EUR	Skin pigmentation [126,127,128]

^aNote that ACKR1 is also known as DARC and the derived allele at rs2814778 is the Duffy O allele
AFR Africans, EAS East Asians, EUR Europeans

ISSN: 1474-760X