Source: ALL
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: rs1409986
rs1409986
2 1.000 0.080 1 70865815 missense variant A/G snv 0.94 0.94 0.010 1.000 1 2012 2012
dbSNP: rs1553655558
rs1553655558
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1799807
rs1799807
6 0.925 0.240 3 165830741 missense variant T/C snv 1.2E-02 1.2E-02 0.020 1.000 2 2000 2002
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0
dbSNP: rs7030789
rs7030789
3 0.925 0.080 9 110973232 intron variant A/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs794727931
rs794727931
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs1057516038
rs1057516038
5 0.925 14 58444158 stop gained C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs879255368
rs879255368
5 19 41984953 missense variant C/G;T snv 0.700 0
dbSNP: rs1555783467
rs1555783467
6 0.882 0.120 20 761120 missense variant C/T snv 0.700 0
dbSNP: rs35320474
rs35320474
2 1.000 0.080 22 24441941 3 prime UTR variant -/T delins 0.010 1.000 1 2012 2012
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0