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: rs118203998
rs118203998
11 0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs869312774
rs869312774
3 0.925 0.160 16 23614019 frameshift variant T/- delins 0.700 0