rs104894366, KRAS

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.776 0.400 12 25245284 missense variant G/A;C snv 0.800 1.000 7 2006 2014
CARDIOFACIOCUTANEOUS SYNDROME 2
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.800 1.000 6 2006 2014
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.776 0.400 12 25245284 missense variant G/A;C snv 0.710 1.000 5 1993 2011
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 4 1993 2011
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2014
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2011
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
14 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2014
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 3 2006 2011