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: rs118203490
rs118203490
1 1.000 0.120 9 132911103 stop gained C/T snv 0.010 1.000 1 2019 2019