Disease: Occipital Encephalocele
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05 12
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 6