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: rs12640488
rs12640488
2 1.000 4 69735020 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2202282
rs2202282
2 1.000 4 69768723 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018