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: rs1226708979
rs1226708979
1 1.000 0.080 22 17181993 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs756881285
rs756881285
4 0.882 0.160 22 17209534 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs77563738
rs77563738
1 1.000 0.080 22 17207107 missense variant C/G;T snv 4.0E-06; 4.7E-04 0.710 1.000 4 2014 2016
dbSNP: rs139750129
rs139750129
1 1.000 0.080 22 17188449 splice acceptor variant T/C snv 1.2E-04 1.7E-04 0.700 1.000 3 2014 2017
dbSNP: rs202134424
rs202134424
1 1.000 0.080 22 17209539 missense variant C/A;G;T snv 4.0E-06; 2.4E-05; 1.1E-04 0.700 1.000 3 2014 2018
dbSNP: rs376785840
rs376785840
1 1.000 0.080 22 17181904 missense variant T/C snv 8.0E-05 7.0E-05 0.700 1.000 3 2014 2017
dbSNP: rs200930463
rs200930463
1 1.000 0.080 22 17209538 missense variant C/A;G snv 4.8E-05; 6.0E-05 0.800 1.000 2 2014 2014
dbSNP: rs587777240
rs587777240
1 1.000 0.080 22 17207287 missense variant G/T snv 0.800 1.000 2 2014 2014
dbSNP: rs587777241
rs587777241
2 0.925 0.160 22 17207277 missense variant G/C snv 1.6E-05 0.800 1.000 2 2014 2014
dbSNP: rs587777242
rs587777242
1 1.000 0.080 22 17191773 missense variant C/G snv 0.800 1.000 2 2014 2014
dbSNP: rs148936893
rs148936893
1 1.000 0.080 22 17203564 missense variant G/A snv 3.6E-05 3.5E-05 0.700 1.000 1 2016 2016
dbSNP: rs775440641
rs775440641
2 0.925 0.120 22 17188342 missense variant T/C snv 8.0E-06 0.700 1.000 1 2017 2017