Source: CURATED

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: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.820 1.000 2 2005 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
0.800 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.800 1.000 1 2007 2007
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 0.909 1 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
0.800 1.000 1 2018 2018
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 1.000 1 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.740 1.000 10 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.730 1.000 1 2008 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.710 1.000 2 2005 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.710 1.000 1 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
0.710 1.000 1 2013 2017
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 1.000 1 2016 2017
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 13 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 11 2004 2012
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
0.700 1.000 1 2016 2016