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: rs1555471098
rs1555471098
CREBBP
6 0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del 0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs34181110
rs34181110
MTHFD1
3 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs766063498
rs766063498
MTHFD1L
2 0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2002 2002
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
dbSNP: rs147495923
rs147495923
SLC5A11
1 1.000 0.080 16 24906679 missense variant A/G snv 1.2E-03 7.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs1479488159
rs1479488159
ISYNA1
1 1.000 0.080 19 18435586 synonymous variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs2303697
rs2303697
ISYNA1
1 1.000 0.080 19 18435868 synonymous variant T/C snv 0.38 0.47 0.010 1.000 1 2004 2004
dbSNP: rs756946661
rs756946661
SLC5A11
1 1.000 0.080 16 24908983 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs986808879
rs986808879
SLC5A11
1 1.000 0.080 16 24891045 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs626105
rs626105
BHMT2 ; DMGDH
1 1.000 0.080 5 79074078 intron variant A/G snv 0.72 0.010 1.000 1 2005 2005
dbSNP: rs939883
rs939883
PCYT1A ; SLC51A
1 1.000 0.080 3 196238244 3 prime UTR variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2004 2007
dbSNP: rs11227332
rs11227332
CFL1 ; SNX32
1 1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14 0.010 1.000 1 2007 2007
dbSNP: rs16863657
rs16863657
PAX3 ; CCDC140
1 1.000 0.080 2 222299799 intron variant A/G snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs4621
rs4621
CFL1 ; SNX32
1 1.000 0.080 11 65856048 synonymous variant G/A snv 0.57 0.52 0.010 1.000 1 2007 2007
dbSNP: rs667555
rs667555
CFL1
1 1.000 0.080 11 65857091 splice donor variant A/C snv 0.54 0.010 1.000 1 2007 2007
dbSNP: rs11569688
rs11569688
NNMT
1 1.000 0.080 11 114312721 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs4646337
rs4646337
NNMT
1 1.000 0.080 11 114312587 3 prime UTR variant A/G snv 0.21 0.010 1.000 1 2008 2008
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 2003 2009
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 1.000 2 2005 2009
dbSNP: rs1001761
rs1001761
TYMS
2 1.000 0.080 18 662103 intron variant G/A snv 0.50 0.55 0.010 1.000 1 2009 2009
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2009 2009