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: rs753044214
rs753044214 		1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1995 2017
dbSNP: rs753044214
rs753044214 		1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1995 2017
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442 		17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2080090
rs2080090 		17 67832255 intron variant T/A snv 0.20
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2019 2019
dbSNP: rs4790941
rs4790941 		17 67981016 intron variant G/A snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4790981
rs4790981 		17 67925718 intron variant A/G snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs4791212
rs4791212 		17 67979269 intron variant C/T snv 0.19
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs60432162
rs60432162 		17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs60432162
rs60432162 		17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs61676547
rs61676547 		17 67896391 intron variant G/C snv 0.34
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7218014
rs7218014 		17 67835900 intron variant T/C snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7216064
rs7216064 		1.000 0.040 17 67902693 intron variant G/A snv 0.22
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.810 1.000 4 2012 2019
dbSNP: rs12602912
rs12602912 		1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2017 2018
dbSNP: rs12602912
rs12602912 		1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0086437
Disease: Joint laxity
Joint laxity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs200595745
rs200595745 		1.000 0.080 17 67919174 intron variant TAATAATAATAATAATAATAATAA/-;TAA;TAATAA;TAATAATAA;TAATAATAATAA;TAATAATAATAATAA;TAATAATAATAATAATAA;TAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAA;TAATAATAATAATAATAATAATAATAATAATAATAA delins 0.19
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs60856912
rs60856912 		1.000 0.080 17 67896227 intron variant G/T snv 0.32
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1555693714
rs1555693714 		0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714 		0.882 0.120 17 67975933 stop gained A/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714 		0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017