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: rs1131692153
rs1131692153 		1.000 0.080 8 60850491 splice acceptor variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692325
rs1131692325 		1.000 0.080 8 60852059 stop gained C/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs113938624
rs113938624 		1.000 8 60865578 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs121434338
rs121434338 		0.925 0.080 8 60822627 missense variant A/G snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs121434340
rs121434340 		1.000 0.080 8 60850506 stop gained C/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C4023386
Disease: Morphological abnormality of the semicircular canal
Morphological abnormality of the semicircular canal 		0.700 0
dbSNP: rs121434342
rs121434342 		1.000 0.080 8 60836105 stop gained G/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434344
rs121434344 		0.882 0.080 8 60816389 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434344
rs121434344 		0.882 0.080 8 60816389 missense variant C/T snv
CUI: C3552136
Disease: HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1320897198
rs1320897198 		1.000 0.080 8 60856562 stop gained C/G;T snv 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1360515765
rs1360515765 		1.000 0.080 8 60852673 stop gained C/G;T snv 7.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1373315351
rs1373315351 		1.000 0.080 8 60865043 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1436515577
rs1436515577 		1.000 0.080 8 60742357 stop gained C/A;T snv 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581198
rs1554581198 		1.000 0.080 8 60741910 frameshift variant T/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581277
rs1554581277 		1.000 0.080 8 60742036 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581399
rs1554581399 		1.000 0.080 8 60742294 stop gained C/A;T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581646
rs1554581646 		1.000 0.080 8 60742723 frameshift variant C/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581674
rs1554581674 		1.000 0.080 8 60742772 frameshift variant AG/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0