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: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
0.800 1.000 0 2001 2017
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.710 1.000 8 2002 2012
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 1.000 8 2002 2012
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.700 1.000 3 2002 2012
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
Ostium secundum atrial septal defect
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve
0.700 1.000 1 2018 2018
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0221217
Disease: Neck webbing
Neck webbing
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C1853638
Disease: Broad neck
Broad neck
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0032227
Disease: Pleural effusion disorder
Pleural effusion disorder
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0455792
Disease: Small scrotum
Small scrotum
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0033999
Disease: Pterygium
Pterygium
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0