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: rs1555523630
rs1555523630
TP53
1.000 0.120 17 7668202 intron variant -/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs876658982
rs876658982
TP53
17 7669691 splice acceptor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs587781664
rs587781664
TP53
1.000 0.120 17 7669692 splice acceptor variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 2010 2015
dbSNP: rs587781664
rs587781664
TP53
1.000 0.120 17 7669692 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2016
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.700 0
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 0
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		0.700 0
dbSNP: rs1555524354
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		0.700 0
dbSNP: rs1555524370
rs1555524370
TP53
0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		0.700 0
dbSNP: rs755394212
rs755394212
TP53
1.000 0.120 17 7670649 stop gained G/A;T snv 2.0E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2010 2015
dbSNP: rs1567541951
rs1567541951
TP53
1.000 0.120 17 7670658 stop gained TGAGTTCCA/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1131691008
rs1131691008
TP53
17 7670659 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1567541975
rs1567541975
TP53
1.000 0.120 17 7670664 stop gained C/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs397516434
rs397516434
TP53
1.000 0.120 17 7670669 missense variant G/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2016 2016
dbSNP: rs397516434
rs397516434
TP53
1.000 0.120 17 7670669 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1567542019
rs1567542019
TP53
1.000 0.120 17 7670673 stop gained C/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567542031
rs1567542031
TP53
1.000 0.120 17 7670673 frameshift variant C/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1567542043
rs1567542043
TP53
1.000 0.120 17 7670675 frameshift variant TCAGCTCT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121912662
rs121912662
TP53
0.925 0.120 17 7670678 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 3 1990 2017