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: rs17648524
rs17648524
4 0.882 0.040 16 7409682 intron variant G/C snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs2352179
rs2352179
1 1.000 0.040 10 86030323 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2018 2018
dbSNP: rs1557043622
rs1557043622
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019