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: rs6010065
rs6010065
1 1.000 0.040 22 50719589 intron variant G/C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs76224556
rs76224556
1 1.000 0.040 22 50695096 intron variant C/A;T snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs1336089966
rs1336089966
1 1.000 0.040 22 50674675 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs376862893
rs376862893
1 1.000 0.040 22 50683352 missense variant C/T snv 1.1E-04 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs767058690
rs767058690
2 0.925 0.040 22 50720865 missense variant G/C;T snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs9616915
rs9616915
2 1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46 0.010 1.000 1 2014 2014
dbSNP: rs762292772
rs762292772
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs1555910143
rs1555910143
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019