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: rs74315353
rs74315353
2 0.925 0.040 1 7965425 missense variant G/C snv 7.0E-06 0.810 1.000 13 2003 2013
dbSNP: rs74315351
rs74315351
6 0.807 0.080 1 7962863 missense variant G/A snv 0.800 1.000 13 2003 2013
dbSNP: rs74315352
rs74315352
6 0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04 0.800 1.000 13 2003 2013
dbSNP: rs28938172
rs28938172
7 0.790 0.080 1 7984981 missense variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs774005786
rs774005786
8 0.790 0.080 1 7970951 missense variant G/A;T snv 3.9E-04; 2.0E-05 0.700 1.000 12 2003 2013
dbSNP: rs781600849
rs781600849
1 1.000 0.040 1 7965336 frameshift variant -/T delins 7.0E-06 0.700 0
dbSNP: rs72480423
rs72480423
2 0.925 0.040 6 161569358 missense variant C/G;T snv 1.3E-04 0.010 1.000 1 2004 2004