Source: CLINVAR

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: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 5 1989 2016
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2014 2016
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs869025191
rs869025191
RIT1
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0