Source: CLINVAR

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: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
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: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		0.700 0