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: 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: 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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.060 0.667 6 2001 2017
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: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.080 0.875 8 2004 2016
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: 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: 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: rs1356639869
rs1356639869
2 1.000 0.040 7 24289527 missense variant C/A snv 0.010 1.000 1 2007 2007
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: 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: 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: 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: 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: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2009 2009
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: rs7947224
rs7947224
1 1.000 0.040 11 100002678 intron variant T/C snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs2295193
rs2295193
1 1.000 0.040 6 152131959 intron variant G/A;C snv 0.030 0.667 3 2010 2014
dbSNP: rs726281
rs726281
1 1.000 0.040 6 151981443 intron variant G/A snv 0.56 0.020 1.000 2 2010 2014