Source: ALL
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: rs146927457
rs146927457
ATP12A
2 0.925 0.120 13 24688392 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs527236031
rs527236031
PIGT ; MIR6812
5 0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs752874517
rs752874517
PIGT ; MIR6812 ; LOC105372631
2 1.000 0.080 20 45425779 missense variant C/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs756632799
rs756632799
PIGT ; LOC107985405
5 0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2014 2014