Disease: Congenital Abnormality
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
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs1801394
FASTKD3 ; MTRR
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1051740
EPHX1
0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31
rs28933068
FGFR3
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 30
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26
rs397514606
AKT3
0.763 0.320 1 243695714 missense variant C/T snv 14
rs368705607
MIXL1
0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 7