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: rs121918156
rs121918156
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1321566264
rs1321566264
2 0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1553424043
rs1553424043
3 0.925 0.120 2 127423123 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs369504169
rs369504169
3 0.925 0.120 2 127421337 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121918146
rs121918146
5 0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs1799808
rs1799808
3 1.000 0.040 2 127418286 upstream gene variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1799810
rs1799810
5 1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44 0.010 1.000 1 2019 2019
dbSNP: rs773761677
rs773761677
1 1.000 0.040 2 127428444 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014