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: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1064793083
rs1064793083 		0.882 0.080 8 60828682 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs1554603550
rs1554603550 		8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs1554603589
rs1554603589 		8 60850623 splice donor variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879 		0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs875989879
rs875989879 		0.925 0.080 8 60853017 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs886040988
rs886040988 		1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1999 2016
dbSNP: rs886040988
rs886040988 		1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166 		1.000 8 60742366 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166 		1.000 8 60742366 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166 		1.000 8 60742366 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1999 2016
dbSNP: rs121434338
rs121434338 		0.925 0.080 8 60822627 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 19 2004 2015
dbSNP: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.810 1.000 16 2004 2015
dbSNP: rs121434339
rs121434339 		1.000 0.080 8 60830569 missense variant T/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2004 2015
dbSNP: rs121434343
rs121434343 		0.925 0.080 8 60853047 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2004 2015
dbSNP: rs200806228
rs200806228 		0.925 0.080 8 60853500 missense variant G/A snv 2.0E-04 1.5E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs201083157
rs201083157 		1.000 0.080 8 60852975 missense variant A/G snv 6.4E-05 2.9E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs201423234
rs201423234 		1.000 0.080 8 60852201 missense variant G/A snv 2.3E-04 2.2E-04
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs370194460
rs370194460 		1.000 0.080 8 60821916 missense variant A/G snv 1.4E-04 2.1E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs373301291
rs373301291 		1.000 0.080 8 60836243 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs587783451
rs587783451 		1.000 0.080 8 60853012 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2004 2015
dbSNP: rs768481542
rs768481542 		1.000 0.080 8 60822028 missense variant G/A snv 7.6E-05 4.2E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs779024959
rs779024959 		1.000 0.080 8 60741727 missense variant G/A;C snv 4.8E-05; 3.2E-05
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015