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: rs1057517688
rs1057517688 		1.000 1 39965333 missense variant C/T snv 4.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1057517689
rs1057517689 		1.000 1 39965490 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1057519087
rs1057519087 		0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs2047007
rs2047007 		1 39962303 intron variant C/T snv 0.17
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2047007
rs2047007 		1 39962303 intron variant C/T snv 0.17
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs2047007
rs2047007 		1 39962303 intron variant C/T snv 0.17
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs571640983
rs571640983 		0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs571640983
rs571640983 		0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs571640983
rs571640983 		0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs571640983
rs571640983 		0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519087
rs1057519087 		0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519087
rs1057519087 		0.925 0.120 1 39967632 missense variant C/T snv 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 2015 2015
dbSNP: rs1057519087
rs1057519087 		0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12072037
rs12072037 		0.882 0.080 1 39954534 upstream gene variant C/A snv 6.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12072037
rs12072037 		0.882 0.080 1 39954534 upstream gene variant C/A snv 6.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12072037
rs12072037 		0.882 0.080 1 39954534 upstream gene variant C/A snv 6.1E-02
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12072037
rs12072037 		0.882 0.080 1 39954534 upstream gene variant C/A snv 6.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011