Disease: Anencephaly
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
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 52
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