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: rs138968705
rs138968705
2 0.925 0.080 4 38828278 missense variant G/A snv 1.2E-04 2.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs376729946
rs376729946
1 1.000 0.040 4 38828732 missense variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs4833095
rs4833095
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs6757121
rs6757121
1 1.000 0.040 2 32224192 3 prime UTR variant C/T snv 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs7194886
rs7194886
4 0.851 0.080 16 50691282 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2014 2014
dbSNP: rs76600635
rs76600635
3 0.925 0.040 4 38798702 missense variant A/G snv 8.2E-03 2.8E-03 0.010 1.000 1 2019 2019