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: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 3 2006 2011
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 16 1994 2017
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 13 1996 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
Squamous cell carcinoma of the head and neck
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
Transitional cell carcinoma of bladder
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1 2016 2016
dbSNP: rs587778720
rs587778720
0.647 0.321 17 7674893 missense variant C/A,G,T snp 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1 2016 2016