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: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2019 2019
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs4704559
rs4704559
4 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2019 2019
dbSNP: rs750196294
rs750196294
2 1.000 0.040 5 1416151 synonymous variant G/A snv 2.4E-05 0.010 1.000 1 2004 2004