rs318240750, CDKN1C

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
CUI: C1846009
Disease: Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
7 0.925 0.240 11 2884119 missense variant C/A;G snv 0.800 1.000 1 2012 2012
Fetal Growth Retardation
CUI: C0015934
Disease: Fetal Growth Retardation
21 0.925 0.240 11 2884119 missense variant C/A;G snv 0.010 1 2013 2013
Russell-Silver syndrome
CUI: C0175693
Disease: Russell-Silver syndrome
12 0.925 0.240 11 2884119 missense variant C/A;G snv 0.010 1 2013 2013