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: rs142515812
rs142515812
1 1.000 3 51361872 missense variant A/T snv 1.3E-03 1.2E-03 0.700 1.000 3 2017 2019
dbSNP: rs199600118
rs199600118
1 1.000 3 51214170 missense variant G/A snv 6.2E-04 7.0E-04 0.700 1.000 3 2017 2019
dbSNP: rs201184598
rs201184598
1 1.000 3 51341357 missense variant A/G snv 2.5E-04 2.0E-04 0.700 1.000 3 2017 2019
dbSNP: rs1553749681
rs1553749681
4 0.925 3 51064514 stop gained C/T snv 0.700 0