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: rs121912664
rs121912664
0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.760 0.833 19 1998 2017
dbSNP: rs11540654
rs11540654
0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.730 1.000 15 1997 2017
dbSNP: rs78378222
rs78378222
0.744 0.179 17 7668434 3 prime UTR variant T/G snp 1.2E-02
CUI: C0017638
Disease: Glioma
Glioma
0.730 1.000 4 2013 2017
dbSNP: rs121912651
rs121912651
0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.720 1.000 24 1991 2017
dbSNP: rs121912666
rs121912666
0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.720 1.000 19 1994 2017
dbSNP: rs28934576
rs28934576
0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.720 1.000 15 1992 2017
dbSNP: rs375338359
rs375338359
0.923 0.143 17 7670684 missense variant C/G,T snp 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.720 1.000 10 1998 2017
dbSNP: rs121912654
rs121912654
0.846 0.143 17 7675143 missense variant C/A,T snp 4.0E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.720 1.000 3 1991 2012
dbSNP: rs121912664
rs121912664
0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.720 1.000 3 2001 2015
dbSNP: rs28934576
rs28934576
0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.720 1.000 3 2007 2015
dbSNP: rs28934575
rs28934575
0.673 0.321 17 7674230 missense variant C/A,G,T snp
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 36 1991 2017
dbSNP: rs587782144
rs587782144
0.821 0.143 17 7675139 missense variant C/G,T snp 4.0E-06; 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 28 1999 2017
dbSNP: rs28934578
rs28934578
0.647 0.357 17 7675088 missense variant snp 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 20 1994 2017
dbSNP: rs397514495
rs397514495
0.707 0.286 17 7675070 missense variant C/A,T snp 1.2E-05 3.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 19 1992 2017
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: rs121912664
rs121912664
0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.710 1.000 14 2001 2016
dbSNP: rs121912651
rs121912651
0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 4 2010 2016
dbSNP: rs121912664
rs121912664
0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.710 1.000 3 2013 2014
dbSNP: rs28934578
rs28934578
0.647 0.357 17 7675088 missense variant snp 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.710 1.000 3 2006 2013
dbSNP: rs121912651
rs121912651
0.618 0.464 17 7674221 missense variant G/A,C snp 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.710 1.000 2 1991 2016
dbSNP: rs121912656
rs121912656
0.667 0.500 17 7674229 missense variant C/A,G,T snp 4.0E-06; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 2 2012 2016
dbSNP: rs121912666
rs121912666
0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 2 2010 2016
dbSNP: rs121912666
rs121912666
0.647 0.321 17 7674872 missense variant T/C,G snp 8.0E-06
Squamous cell carcinoma of the head and neck
0.710 1.000 2 2007 2016
dbSNP: rs121913343
rs121913343
0.638 0.464 17 7673803 missense variant G/A,T snp 1.2E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.710 1.000 2 2016 2016
dbSNP: rs121913343
rs121913343
0.638 0.464 17 7673803 missense variant G/A,T snp 1.2E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.710 1.000 2 2015 2016