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: 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
dbSNP: rs146053308
rs146053308
ATP12A
2 0.925 0.120 13 24690362 missense variant G/A;C snv 2.4E-05; 1.2E-04 7.7E-05 0.010 1.000 1 2016 2016
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: rs567349821
rs567349821
ALPL
3 0.925 0.120 1 21575812 missense variant C/G;T snv 2.0E-05; 1.6E-05 0.010 1.000 1 2018 2018