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: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 9 2013 2016
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0240278
Disease: Lymphatic obstruction
Lymphatic obstruction 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		0.700 0
dbSNP: rs869025195
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2010 2016
dbSNP: rs869025195
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2016
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: rs672601335
rs672601335
RIT1
0.882 0.160 1 155904456 missense variant C/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.800 1.000 9 1987 2016
dbSNP: rs869025194
rs869025194
RIT1
0.882 0.280 1 155904496 missense variant A/C;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 7 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: rs869025189
rs869025189
RIT1
0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 6 2013 2016
dbSNP: rs869025189
rs869025189
RIT1
0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2013 2016
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: rs672601335
rs672601335
RIT1
0.882 0.160 1 155904456 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 4 2013 2014