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: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1131691039
rs1131691039
TP53
0.851 0.240 17 7673700 splice donor variant C/A;G;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1131691042
rs1131691042
TP53
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912652
rs121912652
TP53
0.882 0.200 17 7674191 stop gained C/A;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912653
rs121912653
TP53
0.925 0.120 17 7674208 missense variant A/G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912656
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912657
rs121912657
TP53
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912662
rs121912662
TP53
0.925 0.120 17 7670678 missense variant A/G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912663
rs121912663
TP53
0.925 0.120 17 7673745 missense variant T/A;C snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs121912666
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1555527002
rs1555527002
TP53
1.000 0.120 17 7676556 frameshift variant -/G delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs17882252
rs17882252
TP53
0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs28934873
rs28934873
TP53
0.925 0.120 17 7675214 start lost A/G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs28934875
rs28934875
TP53
0.925 0.120 17 7675200 missense variant C/G snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs55832599
rs55832599
TP53
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs587776768
rs587776768
TP53
1.000 0.120 17 7674902 frameshift variant TT/- delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs587782705
rs587782705
TP53
0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs730882008
rs730882008
TP53
0.683 0.440 17 7673775 missense variant C/A;G;T snv 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs730882019
rs730882019
TP53
0.925 0.200 17 7675157 frameshift variant G/-;GG delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs786202525
rs786202525
TP53
0.925 0.200 17 7675080 frameshift variant G/-;GGGG delins
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs1555526097
rs1555526097
TP53
0.925 0.120 17 7675113 stop gained G/A snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 1 2011 2011
dbSNP: rs201753350
rs201753350
TP53
1.000 0.120 17 7676387 missense variant C/A;T snv 2.5E-04; 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 1 2007 2007
dbSNP: rs587778720
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 3 2007 2011
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 4 1990 2011
dbSNP: rs786201057
rs786201057
TP53
0.677 0.400 17 7675995 missense variant G/A;C;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 4 2003 2016