Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs764109067
rs764109067
ARL13B
6 0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786205645
rs786205645
NEK1
9 0.827 0.160 4 169508827 frameshift variant TA/- delins 0.700 0
dbSNP: rs886039808
rs886039808
CEP290
5 0.851 0.480 12 88083848 stop gained C/T snv 0.700 0