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: rs1028488
rs1028488
2 1.000 0.080 6 170281387 upstream gene variant G/T snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.700 1.000 1 2015 2015
dbSNP: rs4850410
rs4850410
2 1.000 0.080 2 197055445 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7897633
rs7897633
3 1.000 0.080 10 51197961 intron variant C/A snv 0.64 0.700 1.000 1 2015 2015