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.
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Menorrhagia
CUI: C0025323
Disease: Menorrhagia
6 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Myalgia
CUI: C0231528
Disease: Myalgia
22 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Skin Diseases, Vascular
CUI: C0162819
Disease: Skin Diseases, Vascular
2 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
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
CUI: C0265833
Disease: 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
CUI: C0162164
Disease: 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