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: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0334342
Disease: Skin appendage adenoma
Skin appendage adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 8 1995 2011
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 < 0.001 1 1999 1999
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 1998 1998
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 1 1998 1998
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 1998 1998