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: 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: rs3733890
rs3733890
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 1.000 3 2018 2019
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.060 1.000 6 2003 2018
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.030 1.000 3 1999 2012
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: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2012 2012
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: rs773371778
rs773371778
2 0.925 0.080 16 56972000 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs9001
rs9001
2 0.925 0.080 3 53823890 missense variant T/G snv 0.15 0.17 0.010 1.000 1 2009 2009
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: rs4646903
rs4646903
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2013 2013
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: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.040 1.000 4 1999 2013
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2006 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: 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: rs61886492
rs61886492
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2000 2000
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: rs749213026
rs749213026
1 1.000 0.080 10 99235705 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2012 2012
dbSNP: rs769737896
rs769737896
5 0.851 0.080 19 11110759 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2013 2013
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