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: rs74315511
rs74315511
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 0.800 1.000 3 2013 2015
dbSNP: rs370130010
rs370130010
1 1.000 0.040 22 50524078 missense variant G/A;T snv 4.8E-05 0.700 1.000 3 2013 2015
dbSNP: rs145100473
rs145100473
1 1.000 0.040 22 50524071 missense variant C/T snv 8.3E-04 7.6E-04 0.700 0
dbSNP: rs375954523
rs375954523
1 1.000 0.040 22 50524054 missense variant G/A;T snv 8.0E-05; 4.0E-06 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: rs8139305
rs8139305
1 1.000 0.040 22 50523636 missense variant G/A;T snv 2.4E-03; 4.0E-06 0.700 0