rs121918459, PTPN11

N. diseases: 47
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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.720 0.923 13 2001 2013
Congenital insufficiency of pulmonary valve
1 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
Congenital stenosis of pulmonary valve
3 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 4 2001 2012
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 3 2002 2006
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1 2006 2006
Abnormality of bone mineral density
CUI: C4021657
Disease: Abnormality of bone mineral density
1 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Abnormality of skeletal maturation
CUI: C4025818
Disease: Abnormality of skeletal maturation
1 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
5 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
19 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
B lymphoblastic leukemia lymphoma, no ICD-O subtype
2 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
30 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Hearing Loss
CUI: C3887873
Disease: Hearing Loss
61 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0