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: rs104895462
rs104895462
2 0.882 0.120 16 50710911 missense variant C/T snv 0.880 1.000 8 2001 2015
dbSNP: rs104895461
rs104895461
3 0.882 0.120 16 50710912 missense variant G/A;C snv 0.840 1.000 4 2004 2016
dbSNP: rs104895476
rs104895476
2 0.925 0.160 16 50711057 missense variant C/G;T snv 4.8E-05 0.820 1.000 2 2013 2017
dbSNP: rs104895477
rs104895477
2 0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05 0.820 1.000 2 2005 2016
dbSNP: rs104895460
rs104895460
2 0.925 0.080 16 50711316 missense variant C/T snv 0.810 1.000 1 2009 2009
dbSNP: rs104895493
rs104895493
1 1.000 0.080 16 50711059 missense variant A/G snv 0.720 1.000 2 2009 2015
dbSNP: rs2066845
rs2066845
43 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.710 1.000 1 2003 2011
dbSNP: rs200120741
rs200120741
1 1.000 0.080 14 77469173 missense variant G/A snv 2.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs746911440
rs746911440
1 1.000 0.080 16 50723305 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs756199484
rs756199484
1 1.000 0.080 8 89784054 missense variant A/G snv 1.3E-05 0.010 1.000 1 2015 2015