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: rs318240750
rs318240750
CDKN1C
3 0.925 0.240 11 2884119 missense variant C/A;G snv 0.010 < 0.001 1 2013 2013