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: rs28937598
rs28937598
1 1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 0 1999 2015
dbSNP: rs28937868
rs28937868
1 1.000 0.200 22 50524014 missense variant C/T snv 0.800 0
dbSNP: rs74315511
rs74315511
4 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 0 1999 2015
dbSNP: rs80358232
rs80358232
1 1.000 0.200 22 50523738 missense variant G/A;T snv 4.0E-06 0.800 0
dbSNP: rs121908508
rs121908508
1 1.000 0.200 22 50524305 stop gained C/A;T snv 0.700 0
dbSNP: rs74315510
rs74315510
2 0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05 0.700 0
dbSNP: rs74315512
rs74315512
1 1.000 0.200 22 50524144 stop gained G/A snv 1.6E-05 0.700 0