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 0.700 1.000 1 2004 2004
dbSNP: rs569826109
rs569826109
CERKL
2 1.000 0.080 2 181604002 missense variant G/A;T snv 5.2E-05; 5.2E-05 0.700 1.000 1 2008 2008
dbSNP: rs1553512879
rs1553512879
CERKL
1 2 181544799 splice region variant G/C snv 0.700 0
dbSNP: rs201186440
rs201186440
CERKL
1 2 181656814 stop gained C/A;T snv 1.3E-04 0.700 0
dbSNP: rs750151209
rs750151209
CERKL
1 2 181548785 frameshift variant AT/- del 1.2E-05 0.700 0