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: rs1178187217
rs1178187217
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1232880706
rs1232880706
36 0.689 0.440 15 48526247 stop gained C/A;T snv 0.700 0
dbSNP: rs201943194
rs201943194
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs1131690826
rs1131690826
2 1.000 0.040 17 17221628 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs368778627
rs368778627
3 0.882 0.120 17 17222501 stop gained C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs587782069
rs587782069
3 0.925 0.120 17 17224041 stop gained G/A snv 0.010 1.000 1 2013 2013