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: rs796053216
rs796053216
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs1319484809
rs1319484809
1 1.000 0.040 12 51807224 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587780455
rs587780455
7 0.827 0.160 12 51807116 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs587780586
rs587780586
4 0.882 0.160 12 51765675 missense variant G/A snv 0.010 1.000 1 2020 2020
dbSNP: rs672601319
rs672601319
2 0.925 0.160 12 51688810 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs796053229
rs796053229
3 0.882 0.160 12 51807101 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs869312966
rs869312966
7 0.827 0.120 12 51806345 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019