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: rs28936679
rs28936679
1 1.000 0.120 17 76469731 missense variant G/A snv 2.3E-03 7.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs3762836
rs3762836
1 1.000 0.120 4 55444700 missense variant T/A;C snv 2.8E-05; 1.1E-03 0.010 1.000 1 2002 2002
dbSNP: rs76355956
rs76355956
1 1.000 0.120 2 238249067 missense variant C/T snv 1.8E-03 8.5E-04 0.010 1.000 1 2019 2019
dbSNP: rs767621413
rs767621413
1 1.000 0.120 4 55444727 missense variant C/T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs773528016
rs773528016
1 1.000 0.120 17 76469830 missense variant G/A snv 1.3E-05 0.010 1.000 1 2007 2007