rs121918460, PTPN11

N. diseases: 27
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.
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
5 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Choroid plexus cyst
CUI: C0338597
Disease: Choroid plexus cyst
3 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Pterygium
CUI: C0033999
Disease: Pterygium
5 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Small scrotum
CUI: C0455792
Disease: Small scrotum
1 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 0
Dysplastic pulmonary valve
CUI: C1866206
Disease: Dysplastic pulmonary valve
3 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Ostium secundum atrial septal defect
CUI: C0344724
Disease: Ostium secundum atrial septal defect
10 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Right Ventricular Hypertrophy
CUI: C0162770
Disease: Right Ventricular Hypertrophy
6 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Tricuspid Valve Insufficiency
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
5 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2018 2018
Heart Diseases
CUI: C0018799
Disease: Heart Diseases
45 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 3 2002 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.710 1.000 8 2002 2012