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: rs17851045
rs17851045
KRAS
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: rs193929331
rs193929331
KRAS
0.925 0.160 12 25245372 missense variant T/C snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.800 1.000 6 2006 2011
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 5 1993 2011
dbSNP: rs112445441
rs112445441
KRAS
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: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 5 1987 2014
dbSNP: rs387907205
rs387907205
KRAS
0.925 0.160 12 25227313 missense variant A/C;G snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs387907206
rs387907206
KRAS
1.000 12 25225625 missense variant T/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2 		0.800 1.000 5 2006 2012
dbSNP: rs727503110
rs727503110
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
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
KRAS
0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 4 2006 2013
dbSNP: rs727503108
rs727503108
KRAS
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
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.700 1.000 3 2006 2011
dbSNP: rs104894359
rs104894359
KRAS
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2006 2011
dbSNP: rs104894361
rs104894361
KRAS
0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.700 1.000 3 1987 2003
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 3 2006 2011
dbSNP: rs104894366
rs104894366
KRAS
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 1.000 3 2006 2014