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: rs17882252
rs17882252
TP53
0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 1998 2016
dbSNP: rs17882252
rs17882252
TP53
0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0