rs730881014, RIT1

N. diseases: 15
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 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
12 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 1.000 9 2013 2016
Abnormal mitral valve morphology
CUI: C4025759
Disease: Abnormal mitral valve morphology
2 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Abnormality of refraction
CUI: C4025843
Disease: Abnormality of refraction
31 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
14 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Increased nuchal translucency
CUI: C4023676
Disease: Increased nuchal translucency
2 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Lymphatic obstruction
CUI: C0240278
Disease: Lymphatic obstruction
2 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0