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: rs116840766
rs116840766
2 0.925 0.160 7 41965749 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 3 2005 2016