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: rs398122522
rs398122522
2 0.925 0.160 5 35070174 missense variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs376188691
rs376188691
1 1.000 0.080 5 35072607 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs754974807
rs754974807
1 1.000 0.080 5 35068265 missense variant G/A snv 2.4E-05 7.0E-05 0.700 0
dbSNP: rs1341239
rs1341239
8 0.776 0.360 6 22303975 intron variant A/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs17326429
rs17326429
1 1.000 0.080 X 114591899 intron variant G/A snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs3863145
rs3863145
2 0.925 0.120 5 1392596 downstream gene variant G/A snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs40184
rs40184
5 0.851 0.120 5 1394962 intron variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs569959
rs569959
1 1.000 0.080 X 114585887 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2015 2015