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: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 1.000 3 2007 2014
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.800 1.000 1 2012 2012
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.740 1.000 13 1987 2017
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma
0.740 1.000 11 1989 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.710 1.000 2 2013 2016
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: 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: 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: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 1.000 10 2010 2020
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.040 1.000 4 2011 2017
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.030 1.000 3 2011 2017
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 1.000 2 2015 2015
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.020 1.000 2 2011 2014
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.020 1.000 2 2013 2019
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0030354
Disease: Papilloma
Papilloma
0.010 1.000 1 2014 2014
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 1.000 1 2011 2011
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 1.000 1 1997 1997
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C4049272
Disease: Tumour budding
Tumour budding
0.010 1.000 1 2017 2017
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.010 1.000 1 2011 2011
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 1.000 1 2011 2011
dbSNP: rs121913237
rs121913237
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
0.010 1.000 1 2014 2014