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: rs7374540
rs7374540
1 1.000 0.080 3 38592651 intron variant C/A snv 0.49 0.700 1.000 2 2018 2018
dbSNP: rs199473260
rs199473260
2 0.925 0.120 3 38555720 missense variant T/C snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs1805124
rs1805124
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.030 1.000 3 2009 2019
dbSNP: rs11708996
rs11708996
6 0.925 0.120 3 38592432 intron variant G/C snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs199473112
rs199473112
2 0.925 0.080 3 38605956 missense variant G/A;C snv 4.1E-06; 5.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs199473324
rs199473324
2 0.925 0.120 3 38550748 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs41261344
rs41261344
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs756805318
rs756805318
1 1.000 0.080 3 38633283 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs7626962
rs7626962
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs7629265
rs7629265
3 0.882 0.080 3 38607330 intron variant C/T snv 2.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs778337208
rs778337208
1 1.000 0.080 3 38622428 missense variant C/T snv 1.2E-05 0.010 1.000 1 2009 2009