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: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs10170218
rs10170218
1 1.000 0.040 2 187949717 intron variant A/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs159572
rs159572
1 1.000 0.040 5 56211219 intron variant A/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.050 0.800 5 2008 2019
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1799923
rs1799923
CCK
2 0.925 0.040 3 42264802 5 prime UTR variant A/G snv 0.82 0.010 1.000 1 2015 2015
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs2400207
rs2400207
1 1.000 0.040 5 146000534 intron variant A/G snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs3852144
rs3852144
1 1.000 0.040 5 56566769 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs4511180
rs4511180
1 1.000 0.040 1 202180311 non coding transcript exon variant A/G snv 0.65 0.700 1.000 1 2015 2015
dbSNP: rs6269
rs6269
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs6470292
rs6470292
2 1.000 0.040 8 124855801 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2017 2020
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs182455
rs182455
2 0.925 0.120 1 25908492 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs683250
rs683250
2 1.000 0.040 11 83565125 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10055255
rs10055255
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10144436
rs10144436
1 1.000 0.040 14 95090065 3 prime UTR variant C/A snv 2.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs263232
rs263232
1 1.000 0.040 8 130795923 intron variant C/A snv 6.7E-02 0.800 1.000 1 2014 2014