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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.882 68 1997 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 2019
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.100 0.857 14 2002 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.846 13 1999 2019
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 2012 2019
dbSNP: rs1051226
rs1051226
TPM3
1 1 154157607 3 prime UTR variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs34396413
rs34396413
TFAP2A
3 0.925 0.160 6 10400802 intron variant AGA/- delins 6.8E-02 6.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs4988235
rs4988235
MCM6
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs76665876
rs76665876
TRIM4
1 7 99892234 missense variant G/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.090 0.667 9 1997 2018
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.060 0.833 6 2003 2018
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 0.667 3 2003 2018
dbSNP: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2018 2018
dbSNP: rs11549465
rs11549465
HIF1A ; HIF1A-AS3
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs202676
rs202676
FOLH1
7 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 0.010 1.000 1 2018 2018
dbSNP: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs3755166
rs3755166
LRP2
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs753772659
rs753772659
FOLH1
5 0.851 0.120 11 49185830 missense variant G/A snv 5.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766422988
rs766422988
AMT
1 3 49417962 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs906049409
rs906049409
GLDC
1 9 6550898 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1979277
rs1979277
SHMT1
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.030 1.000 3 2001 2017
dbSNP: rs374628070
rs374628070
FOLR3
2 1.000 0.080 11 72139145 missense variant G/A snv 7.7E-05 2.6E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs17719944
rs17719944
SARM1 ; SLC46A1
1 17 28402435 3 prime UTR variant A/G snv 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs2073817
rs2073817
SARDH
1 9 133694338 missense variant C/G;T snv 0.38 0.010 1.000 1 2016 2016