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: rs28936699
rs28936699
1 1.000 0.120 2 201209388 missense variant C/T snv 0.800 1.000 1 2002 2002
dbSNP: rs121909775
rs121909775
2 1.000 0.120 2 201205929 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs398122800
rs398122800
1 1.000 0.120 2 201209189 frameshift variant -/A ins 0.700 0