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: rs1565930588
rs1565930588
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs143003434
rs143003434
7 1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs1556425596
rs1556425596
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs28937900
rs28937900
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs757917335
rs757917335
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs781565158
rs781565158
22 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs869320701
rs869320701
8 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0