Gene: PJVK ×
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: rs1559372512
rs1559372512
PJVK
2 1.000 0.120 2 178461120 inframe deletion ACA/- delins 0.700 0
dbSNP: rs111706634
rs111706634
PJVK
4 0.882 0.120 2 178456149 missense variant C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1316191911
rs1316191911
PJVK
1 2 178461239 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007