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: rs1554581757
rs1554581757 		0.882 0.120 8 60742945 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554581757
rs1554581757 		0.882 0.120 8 60742945 stop gained C/T snv
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581757
rs1554581757 		0.882 0.120 8 60742945 stop gained C/T snv
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554581757
rs1554581757 		0.882 0.120 8 60742945 stop gained C/T snv
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 0
dbSNP: rs1554581814
rs1554581814 		1.000 0.080 8 60743029 frameshift variant -/T ins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554588671
rs1554588671 		1.000 0.080 8 60781134 frameshift variant GAAA/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554593049
rs1554593049 		1.000 0.080 8 60801591 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: rs1554597465
rs1554597465 		1.000 0.080 8 60822046 stop gained G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554597507
rs1554597507 		1.000 0.080 8 60822093 frameshift variant ATACCAGTTGGAGGGA/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554597512
rs1554597512 		1.000 0.080 8 60822103 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554597677
rs1554597677 		1.000 0.080 8 60822533 frameshift variant T/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554597716
rs1554597716 		1.000 0.080 8 60822651 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: rs1554597952
rs1554597952 		1.000 0.080 8 60823847 frameshift variant T/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554599035
rs1554599035 		1.000 0.080 8 60828696 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: rs1554599065
rs1554599065 		1.000 0.080 8 60828774 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: rs1554599462
rs1554599462 		1.000 0.080 8 60830403 frameshift variant -/AGAAACTATTA delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554600538
rs1554600538 		1.000 0.080 8 60836228 frameshift variant T/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554601654
rs1554601654 		1.000 0.080 8 60842036 frameshift variant A/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554602557
rs1554602557 		1.000 0.080 8 60845298 frameshift variant C/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554602587
rs1554602587 		1.000 0.080 8 60845411 splice donor variant T/C snv
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: rs1554603151
rs1554603151 		1.000 0.080 8 60848542 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: rs1554603276
rs1554603276 		1.000 0.080 8 60849105 stop gained G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554603293
rs1554603293 		0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1554603293
rs1554603293 		0.752 0.320 8 60849154 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0