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: rs10070190
rs10070190
2 0.925 0.040 5 26866262 intergenic variant G/A snv 0.60 0.010 1.000 1 2013 2013
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: rs1285957
rs1285957
1 1.000 0.040 7 141889478 downstream gene variant T/C snv 0.86 0.700 1.000 1 2013 2013
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: rs145241704
rs145241704
1 1.000 0.040 7 141805287 upstream gene variant T/G snv 7.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs2834070
rs2834070
2 0.925 0.040 21 33015144 intron variant G/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs370838138
rs370838138
1 1.000 0.040 5 25081736 intergenic variant G/C snv 0.42 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: 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: 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: 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: 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: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2016 2016
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: 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: rs6589488
rs6589488
1 1.000 0.040 11 115226236 intron variant A/T snv 0.90 0.700 1.000 1 2019 2019
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: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2018 2019
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: 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: 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