Source: CLINVAR

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: rs121912655
rs121912655
TP53
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0
dbSNP: rs121912658
rs121912658
TP53
0.925 0.200 17 7676011 stop gained T/A;C;G snv
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0
dbSNP: rs28934574
rs28934574
TP53
0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0
dbSNP: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0
dbSNP: rs730882018
rs730882018
TP53
0.851 0.320 17 7676153 frameshift variant G/-;GG delins
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.700 0