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: rs779000620
rs779000620
1 1.000 0.080 2 15942288 missense variant C/G snv 4.2E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104893648
rs104893648
4 0.882 0.320 2 15945883 missense variant G/A;T snv 0.700 0
dbSNP: rs104893805
rs104893805
2 0.925 0.160 3 181712581 missense variant G/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs587783446
rs587783446
19 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
dbSNP: rs755001161
rs755001161
2 0.925 0.120 10 121538612 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013