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: rs121913500
rs121913500
42 0.615 0.464 2 208248388 missense variant C/A,G,T snp 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs11554137
rs11554137
6 0.821 0.036 2 208248468 synonymous variant G/A snp 5.1E-02 6.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
29 0.652 0.571 1 11796309 missense variant A/G snp 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912665
rs121912665
2 0.923 0.071 17 7674965 missense variant G/A snp 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs12435998
rs12435998
3 0.878 0.179 14 81506329 intron variant T/C snp 0.14 0.010 1.000 1 2016 2016
dbSNP: rs12917
rs12917
6 0.801 0.143 10 129708019 missense variant C/T snp 0.14 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1424913115
rs1424913115
1 1.000 0.036 3 98593250 missense variant C/A,T snp 0.010 1.000 1 2018 2018
dbSNP: rs2308321
rs2308321
5 0.846 0.250 10 129766800 missense variant A/G snp 9.3E-02 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs397515294
rs397515294
3 0.878 0.036 9 132921940 missense variant T/A,C,G snp 4.0E-06; 2.8E-05 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs55819519
rs55819519
18 0.692 0.214 17 7673751 missense variant C/T snp 1.6E-04 1.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs753771086
rs753771086
1 1.000 0.036 7 100855817 missense variant T/C snp 2.8E-05 0.010 1.000 1 2000 2000