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: rs9394574
rs9394574
1 1.000 0.080 6 39071364 intron variant A/G snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs367543060
rs367543060
1 1.000 0.080 6 39066240 missense variant C/T snv 8.0E-06 7.0E-06 0.020 0.500 2 2005 2017
dbSNP: rs10305420
rs10305420
2 0.925 0.160 6 39048860 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2019 2019
dbSNP: rs10305492
rs10305492
2 1.000 0.080 6 39079018 missense variant G/A snv 1.0E-02 1.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs3765467
rs3765467
3 1.000 0.080 6 39065819 missense variant G/A;C;T snv 3.6E-02 1.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs6923761
rs6923761
4 0.851 0.200 6 39066296 missense variant G/A;C snv 0.23; 4.0E-06 0.010 1.000 1 2015 2015