rs121918461, PTPN11

N. diseases: 12
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.
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 25 2001 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.720 1.000 27 2001 2018
Abnormality of cardiovascular system morphology
13 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.700 0
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016