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: rs587781462
rs587781462
4 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs63750111
rs63750111
6 0.882 0.200 2 47800914 stop gained C/A;G snv 0.010 1.000 1 2010 2010