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: rs1555299783
rs1555299783
1 1.000 13 95560391 missense variant C/T snv 0.810 1.000 2 2017 2018
dbSNP: rs759408749
rs759408749
2 0.925 0.040 13 95552897 missense variant C/A;G snv 4.0E-06 0.800 1.000 2 2017 2018
dbSNP: rs930701747
rs930701747
1 1.000 13 95552755 start lost T/C;G snv 0.700 0