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: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2002 2009
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2005 2010
dbSNP: rs10930046
rs10930046
3 0.882 0.200 2 162281473 missense variant T/C snv 9.7E-02 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1167204443
rs1167204443
3 0.882 0.160 2 170829475 missense variant G/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs1190356035
rs1190356035
4 0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs1801208
rs1801208
4 0.882 0.360 4 6301162 missense variant G/A snv 5.7E-02 5.0E-02 0.010 1.000 1 2000 2000
dbSNP: rs2072895
rs2072895
2 0.925 0.120 6 29724080 splice region variant C/G;T snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs2276886
rs2276886
3 0.882 0.120 4 76007275 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2291282
rs2291282
3 0.882 0.120 17 42346547 intron variant T/C snv 1.2E-03 3.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs2735059
rs2735059
2 0.925 0.120 6 29728077 3 prime UTR variant G/A snv 0.42 0.42 0.010 1.000 1 2012 2012
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs6432714
rs6432714
3 0.882 0.160 2 162280842 intron variant A/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs751054919
rs751054919
1 1.000 0.080 14 81142960 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 1993 1993
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018