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: rs777090017
rs777090017
PARN
1 1.000 16 14580874 missense variant T/C snv 8.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs751381953
rs751381953
PARN
1 1.000 16 14627189 splice acceptor variant T/C snv 4.2E-06 0.700 0
dbSNP: rs876661305
rs876661305
PARN
1 1.000 16 14610669 stop gained G/A snv 0.700 0
dbSNP: rs878853260
rs878853260
PARN
2 0.925 16 14609114 frameshift variant -/A delins 0.700 0