Source: ALL
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: rs1212131663
rs1212131663
CAT
1 1.000 0.080 11 34439050 stop gained C/T snv 7.0E-06 0.020 1.000 2 2012 2012