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
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
rs775144154
SLC19A1
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv 21
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05 12