Disease: Spina Bifida
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs780094
GCKR
0.658 0.400 2 27518370 intron variant T/C snv 0.67 62
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 28
rs375752214
NOS3
0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 22
rs3733890
BHMT ; DMGDH
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 16
rs749437638
ARVCF ; COMT
0.752 0.240 22 19968597 missense variant C/T snv 2.4E-05 1.4E-05 14
rs737865
TXNRD2 ; COMT
0.763 0.240 22 19942598 intron variant A/G snv 0.23 11
rs202676
FOLH1
0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 7
rs162036
MTRR
0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 6
rs2797840
SARDH
1.000 0.080 9 133671511 intron variant G/A;C snv 0.53; 1.1E-04 2
rs4816
PCMT1
1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 2
rs502396
TYMS ; TYMSOS
1.000 0.080 18 659236 intron variant C/T snv 0.46 2