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: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs13086738
rs13086738
3 1.000 0.040 3 181080939 intron variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs138206701
rs138206701
2 5 81110747 intron variant A/G snv 1.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs12149074
rs12149074
3 1.000 0.040 16 80071969 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.020 1.000 2 2011 2013
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2004 2010
dbSNP: rs6189
rs6189
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs1805576
rs1805576
3 1.000 0.040 3 180949777 intron variant C/G;T snv 0.24 0.710 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.750 8 2004 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.070 0.714 7 2004 2016
dbSNP: rs10858583
rs10858583
3 1.000 0.040 12 87334666 intergenic variant C/T snv 0.79 0.700 1.000 1 2016 2016
dbSNP: rs13077017
rs13077017
2 3 58120049 intron variant C/T snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs4854912
rs4854912
3 1.000 0.040 3 181063312 intron variant C/T snv 0.15 0.710 1.000 1 2016 2016
dbSNP: rs5522
rs5522
19 0.732 0.320 4 148436323 missense variant C/T snv 0.88 0.89 0.010 1.000 1 2014 2014
dbSNP: rs61754648
rs61754648
1 2 239090026 missense variant C/T snv 1.4E-03 1.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs74566133
rs74566133
2 8 133766099 regulatory region variant C/T snv 2.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs772651364
rs772651364
5 0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2012 2018
dbSNP: rs12475512
rs12475512
2 2 231433365 downstream gene variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2012 2012
dbSNP: rs554073050
rs554073050
CCK
3 0.925 0.040 3 42263460 synonymous variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2019 2019
dbSNP: rs7322916
rs7322916
2 13 25433839 intron variant G/A;C snv 0.800 1.000 1 2013 2013