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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.080 0.875 8 2004 2016
dbSNP: rs2295193
rs2295193
1 1.000 0.040 6 152131959 intron variant G/A;C snv 0.030 0.667 3 2010 2014
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2018 2019
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: rs11783752
rs11783752
2 0.925 0.040 8 20192013 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
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: rs1298806501
rs1298806501
1 1.000 0.040 14 64227600 missense variant G/A snv 4.0E-06 0.010 1.000 1 1998 1998
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: rs13338499
rs13338499
2 0.925 0.040 16 67486220 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs200960801
rs200960801
6 0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
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: rs2287348
rs2287348
1 1.000 0.040 2 53812676 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4622308
rs4622308
3 0.925 0.160 12 56075401 upstream gene variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs4825476
rs4825476
2 0.925 0.040 X 123307628 intron variant G/A;C snv 0.010 1.000 1 2013 2013
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: rs533123
rs533123
3 0.882 0.160 1 28814643 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs9839776
rs9839776
4 0.851 0.160 3 181593779 intron variant C/G;T snv 0.800 1.000 1 2014 2014
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: 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: 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: 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