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: rs429216
rs429216
2 17 78130123 intron variant T/G snv 0.15 0.700 1.000 2 2017 2019
dbSNP: rs2748425
rs2748425
3 17 78128765 5 prime UTR variant G/C snv 0.26 0.700 1.000 1 2016 2016