rs1555524370, TP53

N. diseases: 5
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.
Anemia, Diamond-Blackfan
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
38 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0
BONE MARROW FAILURE SYNDROME 5
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
2 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0
Panhypogammaglobulinemia
CUI: C1328587
Disease: Panhypogammaglobulinemia
2 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0
Severe postnatal growth retardation
CUI: C1857641
Disease: Severe postnatal growth retardation
5 0.925 0.080 17 7670632 frameshift variant T/- del 0.700 0