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: rs139076647
rs139076647
1 1.000 4 105446444 missense variant C/A;T snv 1.5E-04; 2.0E-05 0.800 1.000 2 2016 2016
dbSNP: rs146013446
rs146013446
2 0.925 4 105437964 missense variant C/T snv 4.9E-04 6.9E-04 0.800 1.000 2 2016 2016
dbSNP: rs546693824
rs546693824
1 1.000 4 105437978 missense variant G/A snv 1.6E-05 0.800 1.000 2 2016 2016
dbSNP: rs1057517678
rs1057517678
1 1.000 4 105386625 missense variant T/G snv 0.800 0
dbSNP: rs1057517679
rs1057517679
1 1.000 4 105449391 missense variant T/C snv 0.800 0
dbSNP: rs1057517680
rs1057517680
1 1.000 4 105449353 missense variant C/A snv 0.800 0
dbSNP: rs772083375
rs772083375
1 1.000 4 105456721 missense variant G/A;C snv 8.1E-06; 4.0E-06 0.700 0