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: rs118203917
rs118203917
1 1.000 0.080 2 206774264 stop gained C/T snv 0.700 0
dbSNP: rs755068980
rs755068980
1 1.000 0.080 2 206788032 stop gained C/T snv 1.2E-05 7.0E-06 0.700 0