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: rs121964995
rs121964995
1 1.000 0.080 9 100264835 missense variant T/C snv 0.800 1.000 1 2003 2003
dbSNP: rs200844390
rs200844390
2 0.925 0.080 9 100292952 stop gained C/A;T snv 1.6E-05; 4.8E-05 0.700 1.000 5 2003 2013
dbSNP: rs753348470
rs753348470
1 1.000 0.080 9 100253125 frameshift variant C/- del 8.4E-05 5.6E-05 0.700 1.000 3 2003 2011
dbSNP: rs121964994
rs121964994
2 0.925 0.080 9 100284342 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 0
dbSNP: rs267607185
rs267607185
1 1.000 0.080 9 100292976 stop gained C/A;G;T snv 3.4E-04; 1.6E-05 0.700 0
dbSNP: rs766132877
rs766132877
2 0.925 0.080 2 165899882 splice acceptor variant T/C snv 2.0E-05 2.8E-05 0.700 0