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: rs144340710
rs144340710
TP53
1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.710 1.000 10 1990 2017
dbSNP: rs144340710
rs144340710
TP53
1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2020 2020