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: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs761494650
rs761494650
3 0.925 0.160 22 28734637 stop gained G/A snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs137853011
rs137853011
16 0.763 0.280 22 28695219 missense variant G/A snv 4.9E-04 2.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs1805129
rs1805129
3 0.882 0.120 22 28734470 synonymous variant T/C snv 3.6E-02 4.0E-02 0.010 1.000 1 2004 2004
dbSNP: rs200928781
rs200928781
11 0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs587780191
rs587780191
3 0.882 0.120 22 28699931 missense variant T/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2004 2004