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: rs318240760
rs318240760
1 1.000 10 120871178 missense variant G/A;C snv 1.7E-04; 1.2E-05 0.800 1.000 2 2010 2018
dbSNP: rs139007744
rs139007744
1 1.000 10 120906788 missense variant T/G snv 7.0E-04 3.1E-04 0.700 1.000 2 2010 2018
dbSNP: rs144440500
rs144440500
1 1.000 10 120871218 missense variant G/A snv 1.6E-04 1.7E-04 0.700 1.000 2 2010 2018
dbSNP: rs201051480
rs201051480
1 1.000 10 120866757 missense variant C/T snv 1.6E-05 3.5E-05 0.700 1.000 2 2010 2018
dbSNP: rs318240761
rs318240761
1 1.000 10 120886785 missense variant T/A snv 5.2E-05 4.2E-05 0.700 1.000 2 2010 2018
dbSNP: rs761599645
rs761599645
1 1.000 10 120878406 missense variant C/T snv 1.2E-05 0.700 1.000 2 2010 2018