Disease: Familial aplasia of the vermis
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs386834158
CEP290
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06 10
rs773386777
CEP290
1.000 0.160 12 88093977 splice acceptor variant T/C snv 6