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: rs267607103
rs267607103
1 1.000 0.040 16 2496587 missense variant G/A;C snv 1.3E-04; 4.1E-06 0.810 1.000 2 2010 2010
dbSNP: rs267607104
rs267607104
1 1.000 0.040 16 2496899 missense variant T/C snv 0.800 1.000 2 2010 2010
dbSNP: rs267607105
rs267607105
1 1.000 0.040 16 2500822 missense variant C/T snv 8.3E-06 2.1E-05 0.710 1.000 2 2010 2010
dbSNP: rs376712059
rs376712059
5 0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06 0.700 1.000 3 2015 2017
dbSNP: rs545689324
rs545689324
1 1.000 0.040 16 2496957 missense variant G/A;T snv 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs748759187
rs748759187
1 1.000 0.040 16 2497014 missense variant C/G;T snv 4.0E-06 0.700 0