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: rs2075291
rs2075291
12 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.080 1.000 8 2003 2018
dbSNP: rs3135506
rs3135506
22 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.050 1.000 5 2007 2012
dbSNP: rs149808404
rs149808404
1 11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06 0.020 1.000 2 2014 2019
dbSNP: rs143292359
rs143292359
1 11 116790285 missense variant G/A snv 5.9E-04 5.0E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs201079485
rs201079485
2 0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs574363219
rs574363219
2 1.000 0.040 11 116790427 missense variant C/T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs651821
rs651821
7 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.010 1.000 1 2019 2019
dbSNP: rs662799
rs662799
26 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs774006043
rs774006043
3 0.925 0.080 11 116790561 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs777046568
rs777046568
2 1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06 0.010 1.000 1 2017 2017