Source: UNIPROT

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: rs121912656
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 11 1990 2014