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: rs8058578
rs8058578 		1.000 0.160 16 30714927 intron variant C/T snv 0.32
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.710 1.000 2 2016 2017
dbSNP: rs1555465942
rs1555465942 		1.000 16 30737415 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2012 2016
dbSNP: rs1555465942
rs1555465942 		1.000 16 30737415 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2012 2016
dbSNP: rs1555465966
rs1555465966 		1.000 16 30737767 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2012 2016
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 2012 2016
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0026034
Disease: Microstomia
Microstomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 0
dbSNP: rs199469464
rs199469464 		0.807 0.200 16 30737370 stop gained C/T snv
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1968816
Disease: Broad fingertip
Broad fingertip 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0017639
Disease: Gliosis
Gliosis 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C1865038
Disease: Broad toe
Broad toe 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C3665983
Disease: Oral aversion
Oral aversion 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs199469465
rs199469465 		0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0