rs121918457, PTPN11

N. diseases: 24
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 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 39 2002 2017
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.780 1.000 24 2002 2018
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 10 2002 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2017
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
Neuralgia
CUI: C0027796
Disease: Neuralgia
16 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016