RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs672601335
rs672601335 		0.882 0.160 1 155904456 missense variant C/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.800 1.000 10 1987 2016
dbSNP: rs672601334
rs672601334 		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: rs869025193
rs869025193 		0.925 0.160 1 155904498 missense variant T/C snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.800 1.000 3 2013 2016
dbSNP: rs670523
rs670523 		1.000 0.040 1 155908941 intron variant A/G snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs672601334
rs672601334 		0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 7 2013 2019
dbSNP: rs869025194
rs869025194 		0.882 0.280 1 155904496 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.710 1.000 1 2016 2016
dbSNP: rs869025195
rs869025195 		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: rs869025195
rs869025195 		0.790 0.280 1 155904493 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2010 2016
dbSNP: rs730881014
rs730881014 		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: rs483352822
rs483352822 		0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 7 2013 2016
dbSNP: rs869025194
rs869025194 		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: rs869025189
rs869025189 		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: rs483352822
rs483352822 		0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 5 2013 2016
dbSNP: rs869025189
rs869025189 		0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 5 2013 2016
dbSNP: rs869025191
rs869025191 		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 		0.882 0.160 1 155904456 missense variant C/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2013 2014
dbSNP: rs869025191
rs869025191 		0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2014 2016
dbSNP: rs869025193
rs869025193 		0.925 0.160 1 155904498 missense variant T/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2013 2016
dbSNP: rs869025197
rs869025197 		0.925 0.160 1 155904475 missense variant A/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 2 2016 2016
dbSNP: rs1557962794
rs1557962794 		0.882 0.160 1 155910693 missense variant T/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8 		0.700 1.000 1 2016 2016
dbSNP: rs3856261
rs3856261 		1.000 0.040 1 155906822 intron variant G/A snv 0.36
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs3856261
rs3856261 		1.000 0.040 1 155906822 intron variant G/A snv 0.36
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs670523
rs670523 		1.000 0.040 1 155908941 intron variant A/G snv 0.48
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs670523
rs670523 		1.000 0.040 1 155908941 intron variant A/G snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025196
rs869025196 		1.000 0.160 1 155904489 missense variant G/A snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016