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: rs397516989
rs397516989
PKP2
3 0.925 0.080 12 32850932 frameshift variant -/A delins 0.700 1.000 5 2006 2017