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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1169089134
rs1169089134
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 1.000 13 1999 2016
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 1.000 2 1999 2000
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.936 156 1996 2019
dbSNP: rs121964971
rs121964971
CBS
5 0.851 0.160 21 43058215 missense variant G/A snv 1.2E-05 0.020 0.500 2 2008 2009
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2018 2018
dbSNP: rs1300260120
rs1300260120
1 1.000 0.080 7 22193435 missense variant G/A snv 0.020 1.000 2 2002 2006
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1359880314
rs1359880314
12 0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs1477196
rs1477196
FTO
7 0.851 0.200 16 53774346 intron variant A/G snv 0.71 0.010 1.000 1 2013 2013
dbSNP: rs162036
rs162036
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.040 1.000 4 2004 2013
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2018 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2013 2018
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2003 2007
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2014 2018
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 1.000 3 2002 2017
dbSNP: rs1941404
rs1941404
3 0.882 0.120 11 114298316 non coding transcript exon variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2012 2012