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: rs398124321
rs398124321 		0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 6 2004 2018
dbSNP: rs398124321
rs398124321 		0.925 0.080 8 60850486 splice region variant G/A;T snv 4.0E-06
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2004 2012
dbSNP: rs1060503183
rs1060503183 		1.000 0.080 8 60823837 splice region variant T/C;G snv 1.2E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554602588
rs1554602588 		1.000 0.080 8 60845412 splice region variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554604915
rs1554604915 		1.000 0.080 8 60856441 splice region variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs202143667
rs202143667 		1.000 8 60816506 splice region variant G/A snv 1.4E-05 7.7E-05
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C4022758
Disease: Mild hearing impairment
Mild hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		0.700 0
dbSNP: rs387906271
rs387906271 		0.790 0.320 8 60801598 splice region variant G/C snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587783441
rs587783441 		1.000 0.080 8 60837838 splice region variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs864622523
rs864622523 		1.000 0.080 8 60828661 splice acceptor variant A/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2014
dbSNP: rs1060503180
rs1060503180 		1.000 0.080 8 60848514 splice acceptor variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060503182
rs1060503182 		1.000 0.080 8 60794985 splice acceptor variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs587783448
rs587783448 		1.000 0.080 8 60852017 splice acceptor variant A/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878855031
rs878855031 		1.000 0.080 8 60822022 splice acceptor variant A/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554588675
rs1554588675 		1.000 8 60781137 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016