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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 160 2004 2020
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 14 2002 2015
dbSNP: rs180177032
rs180177032
1 1.000 0.080 7 140781623 missense variant C/A snv 0.800 1.000 10 2006 2015
dbSNP: rs180177033
rs180177033
1 1.000 0.080 7 140781620 missense variant A/C snv 0.800 1.000 10 2006 2015
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.800 1.000 4 2002 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.973 149 2004 2020
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.020 1.000 2 2016 2017
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1370423184
rs1370423184
1 1.000 0.080 7 140778018 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016