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: rs6432877
rs6432877
1 1.000 0.040 2 166142257 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6732655
rs6732655
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.060 1.000 6 2013 2018
dbSNP: rs121918622
rs121918622
9 0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2019
dbSNP: rs2298771
rs2298771
3 0.925 0.040 2 166036278 missense variant C/T snv 0.73 0.74 0.020 1.000 2 2009 2017
dbSNP: rs751514645
rs751514645
1 1.000 0.040 2 166036257 missense variant C/T snv 4.0E-06 2.1E-05 0.020 1.000 2 2009 2017
dbSNP: rs121917955
rs121917955
2 0.925 0.080 2 165992307 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121917986
rs121917986
3 0.882 0.040 2 166002588 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918628
rs121918628
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs121918799
rs121918799
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs121918803
rs121918803
4 0.851 0.040 2 166009745 missense variant C/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1479913332
rs1479913332
1 1.000 0.040 2 166073566 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs770386102
rs770386102
1 1.000 0.040 2 166037822 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019