Source: BEFREE

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: rs1206165503
rs1206165503
TP53
0.925 0.160 17 7675175 stop gained C/T snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.010 1.000 1 2018 2018