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: rs752283089
rs752283089
1 14 67783217 stop gained G/T snv 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs869312914
rs869312914
2 1.000 0.120 14 67752520 stop gained G/A snv 0.700 1.000 2 2013 2015