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: rs773496891
rs773496891
NEK1
1 1.000 0.080 4 169426235 splice acceptor variant C/T snv 0.700 0
dbSNP: rs775849720
rs775849720
NEK1
1 1.000 0.080 4 169507052 frameshift variant T/- delins 7.0E-06 0.700 0
dbSNP: rs794726665
rs794726665
CRMP1 ; EVC
2 0.925 0.120 4 5793722 splice region variant G/A;T snv 6.5E-06; 6.5E-06 0.700 0
dbSNP: rs794727032
rs794727032
NEK1
1 1.000 0.080 4 169577080 splice acceptor variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs79746977
rs79746977
TTC21B
1 1.000 0.080 2 165907746 stop gained G/A snv 6.4E-05 9.1E-05 0.700 0
dbSNP: rs985064686
rs985064686
NEK1
1 1.000 0.080 4 169561520 stop gained C/T snv 8.0E-06 3.5E-05 0.700 0