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: rs1223430276
rs1223430276 		1.000 22 20991684 missense variant G/A snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 7 2006 2019
dbSNP: rs587777177
rs587777177 		1.000 22 20987548 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 6 2014 2019
dbSNP: rs587777178
rs587777178 		0.925 0.080 22 20995865 missense variant C/T snv 4.4E-05 6.3E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 6 2014 2019
dbSNP: rs587777180
rs587777180 		1.000 22 20993967 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 6 2014 2019
dbSNP: rs797045165
rs797045165 		0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 6 2015 2019
dbSNP: rs797045165
rs797045165 		0.925 22 20991686 missense variant C/T snv 7.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.800 1.000 6 2014 2019
dbSNP: rs797045166
rs797045166 		1.000 22 20990474 missense variant G/A snv
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		0.800 1.000 6 2015 2019
dbSNP: rs762834512
rs762834512 		1.000 0.160 22 20996740 missense variant G/A snv 4.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2010 2019
dbSNP: rs869320686
rs869320686 		0.882 22 20990476 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 2006 2017
dbSNP: rs1419388177
rs1419388177 		1.000 22 20996754 missense variant T/C snv 8.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 1.000 6 2014 2019
dbSNP: rs753757778
rs753757778 		1.000 22 20993964 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 1.000 6 2014 2019
dbSNP: rs767354230
rs767354230 		1.000 22 20992819 missense variant C/T snv 2.1E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 1.000 6 2014 2019
dbSNP: rs776005012
rs776005012 		1.000 22 20995805 stop lost G/T snv 8.0E-06
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 1.000 6 2014 2019
dbSNP: rs781431741
rs781431741 		1.000 22 20988118 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		0.700 1.000 6 2014 2019
dbSNP: rs1275511136
rs1275511136 		1.000 0.160 22 20997287 missense variant T/C;G snv
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2018 2019
dbSNP: rs1287917092
rs1287917092 		1.000 0.160 22 20989645 missense variant T/C snv 8.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2018 2019
dbSNP: rs1327579827
rs1327579827 		1.000 0.160 22 20995995 missense variant C/A;G snv
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2018 2019
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1854469
Disease: Noonan Syndrome 2
Noonan Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 1.000 1 2018 2018