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: rs1000256867
rs1000256867
TP53
17 7673550 missense variant T/A;G snv 4.0E-06
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2020 2020
dbSNP: rs1305324490
rs1305324490
TP53
17 7673738 missense variant C/G snv 4.0E-06
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2020 2020
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
dbSNP: rs396991
rs396991
FCGR3A
0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2010 2010
dbSNP: rs587782329
rs587782329
TP53
0.677 0.280 17 7674217 missense variant C/A;G;T snv
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2017 2017
dbSNP: rs672601296
rs672601296
TP53
17 7673734 missense variant G/A snv
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2020 2020
dbSNP: rs730882025
rs730882025
TP53
0.724 0.360 17 7674885 missense variant C/A;G;T snv
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2017 2017
dbSNP: rs863224683
rs863224683
TP53
17 7675224 missense variant G/A;C snv
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2017 2017