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: rs4869317
rs4869317
2 1.000 0.040 5 96956300 intron variant T/A snv 0.22 0.010 1.000 1 2019 2019
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: rs56156506
rs56156506
1 1.000 0.040 X 38140399 intron variant A/T snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs62090893
rs62090893
1 1.000 0.040 18 75338379 intergenic variant G/A snv 9.7E-02 0.800 1.000 1 2013 2013
dbSNP: rs6589488
rs6589488
1 1.000 0.040 11 115226236 intron variant A/T snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs6590474
rs6590474
1 1.000 0.040 11 99982441 intron variant A/C snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs737582
rs737582
1 1.000 0.040 11 99992669 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs75063949
rs75063949
2 0.925 0.040 6 25590813 intron variant C/G snv 0.14 0.700 1.000 1 2018 2018
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: 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: rs774996029
rs774996029
1 1.000 0.040 20 62709682 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs778902328
rs778902328
1 1.000 0.040 7 24291679 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs7947224
rs7947224
1 1.000 0.040 11 100002678 intron variant T/C snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs923768
rs923768
1 1.000 0.040 8 19673452 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018
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: 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: 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: rs5030980
rs5030980
4 0.925 0.120 16 67483042 missense variant C/T snv 3.2E-02 2.9E-02 0.020 1.000 2 2005 2007
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: 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: rs929626
rs929626
2 0.925 0.120 5 158883623 intron variant A/G snv 0.40 0.710 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: rs4622308
rs4622308
3 0.925 0.160 12 56075401 upstream gene variant C/T snv 0.700 1.000 1 2017 2017