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: rs1559366084
rs1559366084
PJVK
1 2 178453569 frameshift variant ACCTTTTACAC/- delins 0.700 0
dbSNP: rs367688416
rs367688416
PJVK
1 2 178454526 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs538027448
rs538027448
PJVK
1 2 178453567 stop gained C/G;T snv 4.0E-06 0.700 0