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: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.800 1.000 9 2013 2016
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 6 2013 2019
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C1285291
Disease: Fetal ascites
Fetal ascites 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0008733
Disease: Chylothorax
Chylothorax 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder 		0.700 0