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: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs1131691003
rs1131691003
TP53
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
TP53
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: rs1131691003
rs1131691003
TP53
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691005
rs1131691005
TP53
17 7670691 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs1131691010
rs1131691010
TP53
17 7676120 frameshift variant GC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691011
rs1131691011
TP53
17 7674932 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691013
rs1131691013
TP53
17 7675223 missense variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691015
rs1131691015
TP53
17 7676379 splice donor variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691016
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691016
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1131691018
rs1131691018
TP53
17 7676537 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691020
rs1131691020
TP53
17 7676405 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691022
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691022
rs1131691022
TP53
0.827 0.160 17 7670685 frameshift variant GG/A;G delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1131691023
rs1131691023
TP53
1.000 0.080 17 7675142 missense variant A/G;T snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 0
dbSNP: rs1131691027
rs1131691027
TP53
17 7673776 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691029
rs1131691029
TP53
0.827 0.160 17 7673794 missense variant C/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1131691031
rs1131691031
TP53
17 7676041 frameshift variant GGAAA/TTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691035
rs1131691035
TP53
17 7674939 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691036
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691038
rs1131691038
TP53
17 7676043 frameshift variant A/TTGGG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0