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: rs121913255
rs121913255
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 13 1989 2014
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 10 1989 2014
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 9 1984 2014
dbSNP: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 9 1989 2014
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2006 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2006 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 8 2006 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 7 1987 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2000 2010
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 4 2004 2009
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 4 2002 2013
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 3 2002 2013
dbSNP: rs121913255
rs121913255
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 3 2002 2013
dbSNP: rs121434596
rs121434596
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 2 2009 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.700 1.000 2 2012 2014
dbSNP: rs121913255
rs121913255
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 2 2009 2016
dbSNP: rs267606921
rs267606921
0.882 0.160 1 114713941 missense variant G/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 2 2010 2011
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.700 1.000 1 2016 2016