Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 0