Gene: NEK1 ×
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: rs200161705
rs200161705
NEK1
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 0.020 1.000 2 2018 2019
dbSNP: rs199947197
rs199947197
NEK1
3 0.925 0.160 4 169424668 stop gained G/C snv 1.2E-04 8.4E-05 0.010 1.000 1 2018 2018