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: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2005 2006
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2009 2016
dbSNP: rs7895833
rs7895833
12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.020 1.000 2 2015 2016
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1800849
rs1800849
5 0.851 0.160 11 74009120 upstream gene variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1996023
rs1996023
3 0.925 0.120 4 45162620 intergenic variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2016266
rs2016266
SP7
3 1.000 0.080 12 53334171 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs324419
rs324419
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2010 2010
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs52804924
rs52804924
2 0.925 0.080 18 60371454 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs743506
rs743506
4 0.925 0.120 7 151009827 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs149106723
rs149106723
NMU
1 1.000 0.080 4 55599178 missense variant G/A snv 1.6E-05 4.2E-05 0.020 1.000 2 2006 2009
dbSNP: rs6232
rs6232
2 0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02 0.020 1.000 2 2014 2017
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs873978
rs873978
1 1.000 0.080 1 46408231 intron variant C/T snv 5.2E-02 0.010 1.000 1 2010 2010