Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C3472624
Disease: B lymphoblastic leukemia lymphoma, no ICD-O subtype
B lymphoblastic leukemia lymphoma, no ICD-O subtype 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0265833
Disease: Congenital insufficiency of pulmonary valve
Congenital insufficiency of pulmonary valve 		0.700 1.000 4 2001 2012
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0162164
Disease: Congenital stenosis of pulmonary valve
Congenital stenosis of pulmonary valve 		0.700 1.000 4 2001 2012
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.700 1.000 4 2001 2012
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 < 0.001 1 2006 2006
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0015672
Disease: Fatigue
Fatigue 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		0.700 0