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: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 16 1989 2019
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 14 1989 2019
dbSNP: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.780 1.000 13 1989 2016
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: 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: 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: C0025202
Disease: melanoma
melanoma
0.720 1.000 8 1989 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: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 6 1987 2016
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.710 1.000 5 2000 2012
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: 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: 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: 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: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma
0.800 1.000 1 2005 2019
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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.710 1.000 1 1997 2016