Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2748427
rs2748427
2 17 78125783 missense variant A/G snv 0.24 0.29 0.700 1.000 2 2016 2019
dbSNP: rs2748424
rs2748424
4 17 78128784 intron variant C/G snv 0.26 0.700 1.000 1 2018 2018