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: rs1048764460
rs1048764460
1 1.000 0.040 16 70482809 stop gained C/A snv 5.6E-05 0.700 0
dbSNP: rs267606740
rs267606740
2 0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0