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: rs1557043622
rs1557043622
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs757075712
rs757075712
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs121908131
rs121908131
4 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121908132
rs121908132
4 0.851 0.240 9 32974544 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs200482683
rs200482683
6 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2013 2013
dbSNP: rs211037
rs211037
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2290732
rs2290732
2 0.925 0.160 5 161897892 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs74315342
rs74315342
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs767419411
rs767419411
3 0.882 0.200 1 161168069 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013