Source: ALL
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: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
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: rs1801394
rs1801394
MTRR ; FASTKD3
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: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.030 1.000 3 1999 2012
dbSNP: rs1194897557
rs1194897557
MTHFR
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.020 1.000 2 1999 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: rs162036
rs162036
MTRR
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1941404
rs1941404
NNMT
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: rs749213026
rs749213026
HPSE2
1 1.000 0.080 10 99235705 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs4646903
rs4646903
CYP1A1
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs769737896
rs769737896
LDLR
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: rs1169089134
rs1169089134
FOLH1
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: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2019
dbSNP: rs1359880314
rs1359880314
SLC19A1
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: 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: rs375752214
rs375752214
NOS3
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs694539
rs694539
NNMT
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs773371778
rs773371778
CETP
2 0.925 0.080 16 56972000 missense variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2013 2018
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 1.000 3 2018 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: rs1300260120
rs1300260120
RAPGEF5
1 1.000 0.080 7 22193435 missense variant G/A snv 0.020 1.000 2 2002 2006