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: rs1057519435
rs1057519435
1.000 0.280 3 114350292 missense variant G/A snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe
0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay
0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560092224
rs1560092224
0.925 0.040 3 114339276 missense variant T/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs1560110565
rs1560110565
1.000 0.280 3 114350278 missense variant G/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353063
rs483353063
1.000 0.280 3 114339355 missense variant C/T snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353065
rs483353065
1.000 0.280 3 114350307 missense variant G/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353067
rs483353067
1.000 0.280 3 114350276 missense variant G/A;T snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs483353069
rs483353069
1.000 0.280 3 114339420 missense variant T/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs10804515
rs10804515
3 114983210 intron variant A/G snv 0.60
CUI: C0489786
Disease: Height
Height
0.700 1.000 1 2007 2007
dbSNP: rs1553794464
rs1553794464
1.000 3 114350821 frameshift variant -/C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 7 2009 2017
dbSNP: rs1553794464
rs1553794464
1.000 3 114350821 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 7 2009 2017
dbSNP: rs9841504
rs9841504
0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.720 0.667 3 2011 2016
dbSNP: rs9841504
rs9841504
0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.720 0.667 3 2011 2016
dbSNP: rs9841504
rs9841504
0.827 0.120 3 114643917 intron variant C/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs7647708
rs7647708
3 114463586 intron variant G/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs483353064
rs483353064
1.000 0.280 3 114350310 missense variant T/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs483353066
rs483353066
1.000 0.280 3 114350291 missense variant T/C snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs483353068
rs483353068
1.000 0.280 3 114339426 missense variant C/G snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs483353070
rs483353070
1.000 0.280 3 114339370 missense variant G/A snv
CUI: C0796121
Disease: Primrose syndrome
Primrose syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 1 2014 2014
dbSNP: rs149509568
rs149509568
1.000 0.040 3 114316541 mature miRNA variant A/G snv 4.0E-06 4.9E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus
Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs150263896
rs150263896
3 114339010 missense variant C/T snv 1.1E-05 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs879255635
rs879255635
3 114339384 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016