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: rs10747478
rs10747478
1 1.000 0.040 1 96435899 intergenic variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs533123
rs533123
3 0.882 0.160 1 28814643 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs7532266
rs7532266
1 1.000 0.040 1 23225130 regulatory region variant A/C snv 0.66 0.010 1.000 1 2011 2011
dbSNP: rs1042571
rs1042571
3 0.882 0.120 2 25161018 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs2287348
rs2287348
1 1.000 0.040 2 53812676 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3749073
rs3749073
1 1.000 0.040 2 230910379 missense variant C/A snv 0.12 0.17 0.010 1.000 1 2011 2011
dbSNP: rs750136455
rs750136455
2 0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs80326661
rs80326661
2 0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2018 2019
dbSNP: rs13100344
rs13100344
1 1.000 0.040 3 94886263 intergenic variant T/A snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs4684677
rs4684677
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs495225
rs495225
4 0.882 0.040 3 172448243 synonymous variant G/A;C;T snv 0.66 0.010 1.000 1 2006 2006
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: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2007 2007
dbSNP: rs752298108
rs752298108
1 1.000 0.040 3 10286806 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs9821797
rs9821797
1 1.000 0.040 3 48680820 intron variant T/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs9839776
rs9839776
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs9874207
rs9874207
1 1.000 0.040 3 70970599 non coding transcript exon variant T/C snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs12504244
rs12504244
2 0.925 0.040 4 54619021 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13125782
rs13125782
1 1.000 0.040 4 7426539 intron variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10052957
rs10052957
4 0.851 0.160 5 143407136 non coding transcript exon variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs10070190
rs10070190
2 0.925 0.040 5 26866262 intergenic variant G/A snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs200312312
rs200312312
1 1.000 0.040 5 104666645 intron variant T/C snv 0.16 0.700 1.000 1 2017 2017