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: 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: 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: 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: 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: rs10096097
rs10096097
1 1.000 0.040 8 30169582 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
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: 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: 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