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
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
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs1801198
TCN2
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 26