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: rs1555526469
rs1555526469
TP53
0.925 0.240 17 7675992 splice donor variant A/C;G;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 5 2008 2015
dbSNP: rs1555526469
rs1555526469
TP53
0.925 0.240 17 7675992 splice donor variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1555526469
rs1555526469
TP53
0.925 0.240 17 7675992 splice donor variant A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0