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: rs137852629
rs137852629
2 0.925 0.080 12 52646750 stop gained C/A;T snv 0.800 1.000 15 1994 2005