Gene: PLN ×
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: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.710 1.000 10 2003 2018
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.710 1.000 1 2003 2003
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 7 2006 2012
dbSNP: rs761056344
rs761056344
PLN ; CEP85L
3 0.925 0.080 6 118558994 missense variant C/G;T snv 4.0E-06; 3.2E-05 0.010 1.000 1 2015 2015