Gene: PKLR ×
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: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs147689373
rs147689373
PKLR
2 0.925 0.160 1 155294618 missense variant C/T snv 6.9E-04 2.6E-03 0.010 1.000 1 2012 2012