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: rs200070962
rs200070962
1 2 166203996 stop gained C/T snp 4.1E-06 0.700 1 2013 2013
dbSNP: rs119482084
rs119482084
2 1.000 0.071 9 92038342 missense variant C/G,T snp 4.3E-04; 1.2E-05 3.2E-04; 3.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs267607087
rs267607087
3 1.000 0.071 9 92047261 missense variant G/A,T snp 0.010 1.000 1 2010 2010
dbSNP: rs587777108
rs587777108
2 1.000 11 63646550 missense variant T/C snp 0.010 1.000 1 2014 2014