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: 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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.667 21 1999 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: rs371399726
rs371399726
FOLR1
1 11 72196080 missense variant C/T snv 4.0E-05 5.6E-05 0.020 1.000 2 1999 2000
dbSNP: rs1203798584
rs1203798584
FOLR2
1 11 72221671 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs748917911
rs748917911
SNAI2 ; LOC107986942
1 8 48920164 missense variant G/T snv 4.8E-05 4.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs1370179177
rs1370179177
GPI
1 19 34378944 missense variant C/T snv 7.0E-06 0.010 1.000 1 2000 2000
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: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2001 2001
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: rs1339039642
rs1339039642
MTHFD1L
2 6 150905744 missense variant C/T snv 1.4E-05 0.010 1.000 1 2002 2002
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: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.050 0.800 5 2003 2013
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.030 1.000 3 2003 2010
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: rs1141321
rs1141321
MMUT
1 6 49444720 missense variant C/G;T snv 0.32 0.010 < 0.001 1 2003 2003
dbSNP: rs150198234
rs150198234
MTR
1 1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs2229384
rs2229384
MMUT
1 6 49457808 synonymous variant C/T snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs61886492
rs61886492
FOLH1
12 0.763 0.360 11 49164722 missense variant G/A snv 3.7E-02 4.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs651646
rs651646
FOLR2
1 11 72218482 intron variant T/A snv 0.52 0.010 < 0.001 1 2003 2003
dbSNP: rs751839046
rs751839046
MTR
1 1 236859890 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs8589
rs8589
MMUT
1 6 49435569 missense variant T/C snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs1169089134
rs1169089134
FOLH1
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.020 1.000 2 2004 2010