TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587781525
rs587781525 		0.689 0.480 17 7673778 missense variant T/A;C;G snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs764146326
rs764146326 		0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1131691003
rs1131691003 		0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs1131691003
rs1131691003 		0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs1131691042
rs1131691042 		0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs1131691042
rs1131691042 		0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs11540652
rs11540652 		0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs11540652
rs11540652 		0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.700 0
dbSNP: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555524354
rs1555524354 		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 		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 		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 		0.925 0.080 17 7670626 frameshift variant C/- delins
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		0.700 0
dbSNP: rs1555524370
rs1555524370 		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 		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 		0.925 0.080 17 7670632 frameshift variant T/- del
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		0.700 0
dbSNP: rs1555524370
rs1555524370 		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: rs281865547
rs281865547 		0.925 0.120 17 7689284 missense variant C/A snv
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 0 2011 2011
dbSNP: rs28934576
rs28934576 		0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs28934576
rs28934576 		0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs55832599
rs55832599 		0.716 0.360 17 7673821 missense variant G/A snv
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs55832599
rs55832599 		0.716 0.360 17 7673821 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 0