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: rs1021645395
rs1021645395 		1.000 0.080 8 60850497 stop gained T/C;G snv 3.5E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C0563243
Disease: Poor coordination
Poor coordination 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057518891
rs1057518891 		0.851 0.120 8 60854479 stop gained C/T snv
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057519423
rs1057519423 		1.000 0.080 8 60742984 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: rs1057521077
rs1057521077 		1.000 0.080 8 60822604 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060499560
rs1060499560 		1.000 0.080 8 60853016 frameshift variant C/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060499937
rs1060499937 		1.000 0.080 8 60844998 frameshift variant G/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1060503181
rs1060503181 		1.000 0.080 8 60816455 frameshift variant T/- delins
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: 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: rs1060503184
rs1060503184 		1.000 0.080 8 60742489 frameshift variant T/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060503185
rs1060503185 		1.000 0.080 8 60852886 frameshift variant CT/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060503187
rs1060503187 		1.000 0.080 8 60822638 missense variant G/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1060503189
rs1060503189 		1.000 0.080 8 60816501 splice donor variant G/- delins
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 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: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1064793346
rs1064793346 		1.000 0.080 8 60862244 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: rs1131690787
rs1131690787 		1.000 0.080 8 60850480 intron 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 0
dbSNP: rs1131691420
rs1131691420 		1.000 0.080 8 60852839 frameshift variant CCTCTCC/- del
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692039
rs1131692039 		1.000 8 60849151 missense variant C/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 0