Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555471098
rs1555471098
CREBBP
0.925 0.120 16 3728852 frameshift variant GCTGGGTGAGA/- del
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.700 0
dbSNP: rs431905509
rs431905509
SLC25A1
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.100 0.938 16 1995 2014
dbSNP: rs34181110
rs34181110
MTHFD1
0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 1998 1998
dbSNP: rs766063498
rs766063498
MTHFD1L
0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 1998 1998
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2000 2003
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2000 2000
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2002 2002
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.030 1.000 3 2003 2009
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2004 2007
dbSNP: rs147495923
rs147495923
SLC5A11
1.000 0.080 16 24906679 missense variant A/G snv 1.2E-03 7.9E-04
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2004 2004
dbSNP: rs1479488159
rs1479488159
ISYNA1
1.000 0.080 19 18435586 synonymous variant G/A snv 4.1E-06 7.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2004 2004
dbSNP: rs2303697
rs2303697
ISYNA1
1.000 0.080 19 18435868 synonymous variant T/C snv 0.38 0.47
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2004 2004
dbSNP: rs756946661
rs756946661
SLC5A11
1.000 0.080 16 24908983 missense variant C/T snv 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2004 2004
dbSNP: rs986808879
rs986808879
SLC5A11
1.000 0.080 16 24891045 missense variant C/T snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2004 2004
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2005 2009
dbSNP: rs626105
rs626105
BHMT2 ; DMGDH
1.000 0.080 5 79074078 intron variant A/G snv 0.72
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2005 2005
dbSNP: rs4816
rs4816
PCMT1
1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.020 1.000 2 2006 2012
dbSNP: rs939883
rs939883
PCYT1A ; SLC51A
1.000 0.080 3 196238244 3 prime UTR variant A/G;T snv
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2006 2006
dbSNP: rs11227332
rs11227332
CFL1 ; SNX32
1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2007 2007
dbSNP: rs16863657
rs16863657
PAX3 ; CCDC140
1.000 0.080 2 222299799 intron variant A/G snv 0.16
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2007 2007
dbSNP: rs4621
rs4621
CFL1 ; SNX32
1.000 0.080 11 65856048 synonymous variant G/A snv 0.57 0.52
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2007 2007
dbSNP: rs667555
rs667555
CFL1
1.000 0.080 11 65857091 splice donor variant A/C snv 0.54
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2007 2007
dbSNP: rs11569688
rs11569688
NNMT
1.000 0.080 11 114312721 3 prime UTR variant G/A snv 0.13
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2008 2008
dbSNP: rs4646337
rs4646337
NNMT
1.000 0.080 11 114312587 3 prime UTR variant A/G snv 0.21
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2008 2008