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: rs4513633
rs4513633 		4 112649483 intron variant C/A;G snv
CUI: C2697764
Disease: Interleukin 16 Measurement
Interleukin 16 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1057519017
rs1057519017 		1.000 0.280 4 112647714 frameshift variant -/AAGGATA delins
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519297
rs1057519297 		1.000 0.280 4 112646356 frameshift variant -/AT delins
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1060499762
rs1060499762 		4 112647384 stop gained A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1554011296
rs1554011296 		1.000 0.280 4 112646904 frameshift variant -/TT delins
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554011754
rs1554011754 		1.000 0.280 4 112647352 splice acceptor variant CCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCTGAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATCATTAAGGAAGCATCAGAAGCTTCCAAGGAAAATAGAGGTAAAACTACAAGGTTTTAATTAGATAAAACTAATTAATTTTAATTAATTAGTTTTTAATTAATTAGGTTTTAATTGGCTTCTGTTTCACCCATTTCACAGCCCCATGTCTTAACGGAGAGCTTTTTTATTTATTTCAAGATATAGAAATCTCTACTGAAGAGGAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAGAAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCAAAGTAAGTCTGTGGTTTAAATTCTGTCATTGGCTTAACAATCCATCACCATTGCTAAAGTGCAATTCCAATTTATATTCAACAGAGTTGCATATTAGCAACAGTAATGGCCTGTAGCCAAGAACTGCACACAGTGTGGGCGTTAACGCAATTGCTGATTAGGTAGGAACCACCACACTCAAACATGGAAGCACTTATTTTTGTCATGTCACAGCAAGTGCCTCCATGTTAAAGTAGAGGGGGCCCCTTAACAGATGTAAAAATACAAAA/- delins
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1560929898
rs1560929898 		1.000 0.280 4 112646828 frameshift variant A/- delins
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs756894838
rs756894838 		1.000 0.280 4 112647197 splice region variant GAAGA/- delins 3.5E-05
CUI: C3554439
Disease: Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Alazami type 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs778909076
rs778909076 		4 112657243 splice acceptor variant GTTA/- delins 1.4E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs199971565
rs199971565 		0.925 0.080 4 112648384 mature miRNA variant ACTT/- delins 2.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs199971565
rs199971565 		0.925 0.080 4 112648384 mature miRNA variant ACTT/- delins 2.1E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs199971565
rs199971565 		0.925 0.080 4 112648384 mature miRNA variant ACTT/- delins 2.1E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019