rs121918679, TF

N. diseases: 1
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.
Congenital atransferrinemia
CUI: C0521802
Disease: Congenital atransferrinemia
4 1.000 0.080 3 133766376 missense variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06 0.800 1.000 2 2000 2004