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.
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
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
B lymphoblastic leukemia lymphoma, no ICD-O subtype
CUI: C3472624
Disease: 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
Knee reflex absent
CUI: C0558844
Disease: Knee reflex absent
2 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Lumbar scoliosis
CUI: C2748518
Disease: Lumbar scoliosis
2 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
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
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
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
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
Long toe
CUI: C3150613
Disease: Long toe
8 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
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
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
Long face
CUI: C1836047
Disease: Long face
12 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
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 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
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
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
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
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 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