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: rs202057289
rs202057289
2 0.925 0.160 2 169129060 stop gained G/A snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs104894190
rs104894190
AIP
4 0.882 0.120 11 67490911 missense variant G/A snv 1.7E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs1456671183
rs1456671183
1 1.000 0.120 5 35065526 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs147265072
rs147265072
1 1.000 0.120 5 35065411 missense variant T/A;C snv 9.0E-04; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4930199
rs4930199
AIP
4 0.851 0.120 11 67490920 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2016 2016