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: rs1057518891
rs1057518891
6 0.923 0.071 8 60854479 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs1057518908
rs1057518908
6 0.923 0.071 12 47984112 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs140119177
rs140119177
7 1.000 0.071 9 93447639 missense variant G/A snp 6.8E-05 2.2E-04 0.700 1 2015 2015
dbSNP: rs397507542
rs397507542
7 0.846 0.286 12 112489069 missense variant G/T snp 0.700 1 2015 2015
dbSNP: rs587784177
rs587784177
16 0.846 0.143 5 177283827 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs763944786
rs763944786
5 1.000 0.036 19 38469119 stop gained C/T snp 1.2E-05 0.700 1 2015 2015
dbSNP: rs886041287
rs886041287
8 0.923 0.143 2 178535594 frameshift variant C/CTG in-del 0.700 1 2015 2015
dbSNP: rs1057518789
rs1057518789
2 16 3728803 stop gained G/A snp 0.700 0
dbSNP: rs1057518812
rs1057518812
8 0.878 0.143 15 48430742 missense variant T/A snp 0.700 0
dbSNP: rs1057518828
rs1057518828
1 17 44911317 missense variant T/G snp 0.700 0
dbSNP: rs727503054
rs727503054
14 0.756 0.179 15 48420752 missense variant A/G,T snp 1.6E-05 0.700 0