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: rs1114167445
rs1114167445
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs370717845
rs370717845
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0