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: rs1313319892
rs1313319892
1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1313319892
rs1313319892
1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1313319892
rs1313319892
1.000 1 151406306 stop gained G/A;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545
1.000 1 151406046 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545
1.000 1 151406046 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212545
rs1553212545
1.000 1 151406046 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
1.000 1 151406151 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978
1.000 1 151406322 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978
1.000 1 151406322 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978
1.000 1 151406322 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs864321674
rs864321674
0.925 0.160 1 151406100 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 13 1999 2017
dbSNP: rs864321671
rs864321671
1.000 0.160 1 151408151 frameshift variant AGAG/- delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321672
rs864321672
1.000 0.160 1 151406271 frameshift variant -/G delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321673
rs864321673
1.000 0.160 1 151428149 stop gained G/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321674
rs864321674
0.925 0.160 1 151406100 stop gained G/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321675
rs864321675
1.000 0.160 1 151406254 frameshift variant -/A delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1384666
Disease: hearing impairment
hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C4551560
Disease: Truncal obesity
Truncal obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.700 0