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: rs104894767
rs104894767
3 0.882 0.160 X 50915966 missense variant G/A;T snv 1.0E-02; 2.3E-04 0.020 1.000 2 2010 2014
dbSNP: rs141218518
rs141218518
2 0.925 0.080 X 50916009 missense variant T/C snv 2.0E-03 1.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs17003221
rs17003221
2 0.925 0.080 X 50916280 synonymous variant C/T snv 5.8E-02 0.14 0.010 1.000 1 2015 2015
dbSNP: rs3810682
rs3810682
2 0.925 0.080 X 50910775 5 prime UTR variant C/G snv 0.16 0.19 0.010 1.000 1 2015 2015
dbSNP: rs782609889
rs782609889
2 0.925 0.080 X 50916386 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs79377927
rs79377927
2 0.925 0.080 X 50916217 synonymous variant C/T snv 0.010 1.000 1 2015 2015