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: rs55778204
rs55778204
2 0.925 0.160 2 47470993 missense variant A/G snv 2.3E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs63750934
rs63750934
5 0.882 0.160 2 47414368 stop gained C/T snv 0.010 1.000 1 2014 2014