Gene: CERKL ×
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: rs121909398
rs121909398
CERKL
7 0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06 0.730 1.000 9 2004 2019
dbSNP: rs753994107
rs753994107
CERKL
3 0.925 0.080 2 181603835 splice donor variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1553513437
rs1553513437
CERKL
2 0.925 0.080 2 181548674 splice donor variant CTTA/- delins 0.700 0