rs137852814, SOS1

N. diseases: 16
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 4
CUI: C1853120
Disease: Noonan Syndrome 4
30 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.800 1.000 9 2007 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 1.000 8 2007 2014
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Fibromatosis, Gingival, Type 1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
9 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Low-set nipples
CUI: C1836933
Disease: Low-set nipples
2 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Multiple lentigines
CUI: C1328931
Disease: Multiple lentigines
12 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Nevus
CUI: C0027960
Disease: Nevus
43 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 0