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: rs182152244
rs182152244
3 16 332991 intron variant C/G snv 5.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs781191470
rs781191470
4 16 307744 intron variant G/A snv 3.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs9924506
rs9924506
2 16 314128 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018