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: rs34203073
rs34203073
2 1.000 0.040 5 77035624 missense variant G/A snv 1.0E-02 9.9E-03 0.720 1.000 2 2004 2006
dbSNP: rs115308424
rs115308424
2 0.925 0.240 19 35849273 missense variant C/T snv 1.4E-03 6.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs1191455921
rs1191455921
3 0.925 0.240 9 126693319 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1417808440
rs1417808440
1 1.000 0.040 1 231694044 missense variant C/T snv 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1421612208
rs1421612208
1 1.000 0.040 17 7556804 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs387907145
rs387907145
36 0.695 0.440 16 4800548 stop gained G/A snv 0.010 1.000 1 2012 2012