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: rs112007204
rs112007204
2 0.923 0.036 X 136488224 missense variant G/A snp 0.010 1.000 1 2016 2016
dbSNP: rs386352352
rs386352352
6 0.821 0.071 19 14097604 missense variant A/C snp 0.010 1.000 1 2014 2014
dbSNP: rs56149945
rs56149945
35 0.626 0.643 5 143399752 missense variant T/A,C snp 2.0E-02 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs76308115
rs76308115
5 0.846 0.143 2 178014454 stop gained G/A snp 2.9E-03 4.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs770013761
rs770013761
2 0.923 0.036 20 23035593 missense variant C/A,T snp 5.2E-06; 1.0E-05 0.010 1.000 1 2016 2016