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: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 16 2005 2015
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2005 2014
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2005 2016
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 11 2005 2014
dbSNP: rs121913238
rs121913238
0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2005 2014
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2005 2014
dbSNP: rs121913535
rs121913535
0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2005 2014
dbSNP: rs770248150
rs770248150
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 9 2005 2016
dbSNP: rs1057519725
rs1057519725
0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 8 2005 2011
dbSNP: rs121913527
rs121913527
0.807 0.320 12 25225628 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 8 2005 2011
dbSNP: rs193929331
rs193929331
0.925 0.160 12 25245372 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 8 2007 2014
dbSNP: rs104894365
rs104894365
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 6 2006 2011
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 6 1987 2016
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 5 1987 2012
dbSNP: rs727503110
rs727503110
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.700 1.000 5 2002 2011
dbSNP: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 1993 2011
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913238
rs121913238
0.732 0.240 12 25227343 missense variant G/C;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913240
rs121913240
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 4 2002 2008
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs121913535
rs121913535
0.742 0.320 12 25245348 missense variant C/A;G;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.700 1.000 4 2007 2013
dbSNP: rs727503108
rs727503108
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.700 1.000 4 2006 2013
dbSNP: rs727503108
rs727503108
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 1.000 4 2006 2013